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Search results 1 to 100 out of 168 for Bloc1s6

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Category: Publication
Type Details Score
Publication
First Author: van Liempd SM
Year: 2017
Journal: Sci Rep
Title: BLOC-1 deficiency causes alterations in amino acid profile and in phospholipid and adenosine metabolism in the postnatal mouse hippocampus.
Volume: 7
Issue: 1
Pages: 5231
Publication
First Author: Erway LC
Year: 1971
Journal: Genetics
Title: Prevention of congenital otolith defect in pallid mutant mice by manganese supplementation.
Volume: 67
Issue: 1
Pages: 97-108
Publication
First Author: Lyon MF
Year: 1955
Journal: J Embryol Exp Morphol
Title: The developmental origin of hereditary absence of otoliths in mice.
Volume: 3
Issue: Pt 3
Pages: 230-41
Publication
First Author: Cotzias GC
Year: 1972
Journal: Science
Title: A mutation influencing the transportation of manganese, L-dopa, and L-tryptophan.
Volume: 176
Issue: 4033
Pages: 410-2
Publication
First Author: Sullo N
Year: 2013
Journal: Am J Respir Cell Mol Biol
Title: Skeletal muscle oxidative metabolism in an animal model of pulmonary emphysema: formoterol and skeletal muscle dysfunction.
Volume: 48
Issue: 2
Pages: 198-203
Publication
First Author: McGarry MP
Year: 2002
Journal: Exp Mol Pathol
Title: Pulmonary pathologies in pallid mice result from nonhematopoietic defects.
Volume: 72
Issue: 3
Pages: 213-20
Publication
First Author: de Santi MM
Year: 1995
Journal: Lab Invest
Title: Pallid mice with genetic emphysema. Neutrophil elastase burden and elastin loss occur without alteration in the bronchoalveolar lavage cell population.
Volume: 73
Issue: 1
Pages: 40-7
Publication
First Author: Yoshida M
Year: 2009
Journal: Lab Invest
Title: Functional evaluation of pallid mice with genetic emphysema.
Volume: 89
Issue: 7
Pages: 760-8
Publication
First Author: Trune DR
Year: 1983
Journal: Am J Otolaryngol
Title: A morphometric study of the pallid mutant mouse inner ear.
Volume: 4
Issue: 4
Pages: 261-72
Publication
First Author: Martorana PA
Year: 1993
Journal: Lab Invest
Title: The pallid mouse. A model of genetic alpha 1-antitrypsin deficiency.
Volume: 68
Issue: 2
Pages: 233-41
Publication
First Author: Trune DR
Year: 1983
Journal: J Neurogenet
Title: The behavior and vestibular nuclear morphology of otoconia-deficient pallid mutant mice.
Volume: 1
Issue: 1
Pages: 53-69
Publication
First Author: Shrader RE
Year: 1973
Journal: Teratology
Title: Mucopolysaccharide synthesis in the developing inner ear of manganese-deficient and pallid mutant mice.
Volume: 8
Issue: 3
Pages: 257-66
Publication
First Author: Lyon MF
Year: 1953
Journal: J Genet
Title: Absence of otoliths in the mouse: An effect of the pallid mutant.
Volume: 51
Issue: 3
Pages: 638-50
Publication  
First Author: Lee FY
Year: 2018
Journal: Front Neurosci
Title: Sleep/Wake Disruption in a Mouse Model of BLOC-1 Deficiency.
Volume: 12
Pages: 759
Publication
First Author: Korsgren C
Year: 1994
Journal: Genomics
Title: cDNA sequence, gene sequence, and properties of murine pallidin (band 4.2), the protein implicated in the murine pallid mutation.
Volume: 21
Issue: 3
Pages: 478-85
Publication
First Author: Falcón-Pérez JM
Year: 2002
Journal: Pigment Cell Res
Title: The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis.
Volume: 15
Issue: 2
Pages: 82-6
Publication
First Author: Mann K
Year: 1989
Journal: EMBO J
Title: Amino acid sequence of mouse nidogen, a multidomain basement membrane protein with binding activity for laminin, collagen IV and cells.
Volume: 8
Issue: 1
Pages: 65-72
Publication
First Author: Huang L
Year: 1997
Journal: Nat Genet
Title: A novel gene involved in zinc transport is deficient in the lethal milk mouse.
Volume: 17
Issue: 3
Pages: 292-7
Publication
First Author: Graff RJ
Year: 1986
Journal: J Hered
Title: Abnormal bone production associated with mutant mouse genes pa and we.
Volume: 77
Issue: 2
Pages: 109-13
Publication
First Author: Bodmer WF
Year: 1961
Journal: Heredity
Title: Viability effects and recombination differences in a linkage test with pallid and fidget in the house mouse.
Volume: 16
Issue: 4
Pages: 485-95
Publication
First Author: Hurley LS
Year: 1976
Journal: Fed Proc
Title: Interaction of genes and metals in development.
Volume: 35
Issue: 11
Pages: 2271-5
Publication
First Author: Ito A
Year: 2018
Journal: J Neurochem
Title: Pallidin is a novel interacting protein for cytohesin-2 and regulates the early endosomal pathway and dendritic formation in neurons.
Volume: 147
Issue: 2
Pages: 153-177
Publication
First Author: Gwynn B
Year: 1996
Journal: Mol Biol Cell
Title: Genetic mapping distinguishes the gene encoding protein 4.2 from the mouse platelet storage pool deficiency mutation pallid.
Volume: 7
Issue: Suppl
Pages: 550a (Abstr.)
Publication
First Author: Falcón-Pérez JM
Year: 2002
Journal: J Biol Chem
Title: BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.
Volume: 277
Issue: 31
Pages: 28191-9
Publication  
First Author: Min SH
Year: 2014
Journal: Nat Commun
Title: Loss of PIKfyve in platelets causes a lysosomal disease leading to inflammation and thrombosis in mice.
Volume: 5
Pages: 4691
Publication
First Author: Novak EK
Year: 1985
Journal: Blood
Title: Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome.
Volume: 66
Issue: 5
Pages: 1196-201
Publication
First Author: Kakizoe E
Year: 2001
Journal: J Invest Dermatol
Title: Isoform-selective upregulation of mast cell chymase in the development of skin fibrosis in scleroderma model mice.
Volume: 116
Issue: 1
Pages: 118-23
Publication
First Author: Marie I
Year: 2002
Journal: J Invest Dermatol
Title: Endothelial dysfunction in murine model of systemic sclerosis: tight-skin mice 1.
Volume: 119
Issue: 6
Pages: 1379-87
Publication
First Author: Phelps RG
Year: 1993
Journal: J Autoimmun
Title: Induction of skin fibrosis and autoantibodies by infusion of immunocompetent cells from tight skin mice into C57BL/6 Pa/Pa mice.
Volume: 6
Issue: 6
Pages: 701-18
Publication
First Author: Ito S
Year: 2006
Journal: Am J Respir Cell Mol Biol
Title: Early emphysema in the tight skin and pallid mice: roles of microfibril-associated glycoproteins, collagen, and mechanical forces.
Volume: 34
Issue: 6
Pages: 688-94
Publication
First Author: Dimitriu-Bona A
Year: 1993
Journal: Cell Immunol
Title: Studies of the cellular immune response to heparan sulfate proteoglycan in the tight skin mouse.
Volume: 150
Issue: 2
Pages: 321-32
Publication
First Author: Weihrauch D
Year: 2007
Journal: Am J Physiol Heart Circ Physiol
Title: Effects of D-4F on vasodilation, oxidative stress, angiostatin, myocardial inflammation, and angiogenic potential in tight-skin mice.
Volume: 293
Issue: 3
Pages: H1432-41
Publication
First Author: Roberts E
Year: 1931
Journal: Science
Title: A NEW MUTATION IN THE HOUSE MOUSE (MUS MUSCULUS).
Volume: 74
Issue: 1927
Pages: 569
Publication
First Author: Lee FY
Year: 2021
Journal: J Neurosci Res
Title: Sex-dimorphic effects of biogenesis of lysosome-related organelles complex-1 deficiency on mouse perinatal brain development.
Volume: 99
Issue: 1
Pages: 67-89
Publication
First Author: Spiegel S
Year: 2015
Journal: Genes Brain Behav
Title: Recognition deficits in mice carrying mutations of genes encoding BLOC-1 subunits pallidin or dysbindin.
Volume: 14
Issue: 8
Pages: 618-24
Publication
First Author: Endlich N
Year: 2009
Journal: Kidney Int
Title: Palladin is a dynamic actin-associated protein in podocytes.
Volume: 75
Issue: 2
Pages: 214-26
Publication
First Author: Gwynn B
Year: 1997
Journal: Genomics
Title: The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid.
Volume: 42
Issue: 3
Pages: 532-5
Publication
First Author: BORGER R
Year: 1950
Journal: Nature
Title: Order of genes in the 5th linkage group of the house mouse.
Volume: 166
Issue: 4225
Pages: 697
Publication
First Author: Sargent JL
Year: 2016
Journal: Arthritis Rheumatol
Title: Identification of Optimal Mouse Models of Systemic Sclerosis by Interspecies Comparative Genomics.
Volume: 68
Issue: 8
Pages: 2003-15
Publication
First Author: Lilly F
Year: 1967
Journal: Transplantation
Title: The location of histocompatibility-6 in the mouse genome
Volume: 5
Issue: 1
Pages: 83-85
Publication
First Author: Ciciotte SL
Year: 2003
Journal: Blood
Title: Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).
Volume: 101
Issue: 11
Pages: 4402-7
Publication
First Author: Huang L
Year: 1999
Journal: Nat Genet
Title: The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency.
Volume: 23
Issue: 3
Pages: 329-32
Publication
First Author: Carter TC
Year: 1954
Journal: J Hered
Title: Ragged, a semidominant coat texture mutant.
Volume: 45
Issue: 4
Pages: 151-154
Publication  
First Author: Ma J
Year: 2019
Journal: Biosci Rep
Title: Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids.
Volume: 39
Issue: 2
Publication
First Author: Green EL
Year: 1961
Journal: J Hered
Title: Opossum, a semi-dominant lethal mutation affecting hair and other characteristics of mice.
Volume: 52
Issue: 5
Pages: 223-7
Publication
First Author: Nazarian R
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
Volume: 100
Issue: 15
Pages: 8770-5
Publication
First Author: Novak EK
Year: 1979
Journal: Genetics
Title: Lysosomal dysfunctions associated with mutations at mouse pigment genes.
Volume: 92
Issue: 1
Pages: 189-204
Publication
First Author: Keil M
Year: 1996
Journal: Lab Invest
Title: A scanning electron microscopic investigation of genetic emphysema in tight-skin, pallid, and beige mice, three different C57 BL/6J mutants.
Volume: 74
Issue: 2
Pages: 353-62
Publication  
First Author: Gardi C
Year: 1994
Journal: Biochem J
Title: Neutrophil lysosomal dysfunctions in mutant C57 Bl/6J mice: interstrain variations in content of lysosomal elastase, cathepsin G and their inhibitors.
Volume: 299 ( Pt 1)
Pages: 237-45
Publication
First Author: Yuan Y
Year: 2015
Journal: J Genet Genomics
Title: Impaired autophagy in hilar mossy cells of the dentate gyrus and its implication in schizophrenia.
Volume: 42
Issue: 1
Pages: 1-8
Publication
First Author: Larimore J
Year: 2014
Journal: J Biol Chem
Title: Mutations in the BLOC-1 subunits dysbindin and muted generate divergent and dosage-dependent phenotypes.
Volume: 289
Issue: 20
Pages: 14291-300
Publication
First Author: Wang H
Year: 2014
Journal: J Biol Chem
Title: Dysbindin-1C is required for the survival of hilar mossy cells and the maturation of adult newborn neurons in dentate gyrus.
Volume: 289
Issue: 42
Pages: 29060-72
Publication
First Author: Juriloff DM
Year: 1991
Journal: J Hered
Title: Mapping the mouse craniofacial mutation first arch (Far) to chromosome 2.
Volume: 82
Issue: 5
Pages: 402-5
Publication
First Author: Hoffman HA
Year: 1974
Journal: J Hered
Title: Genetic studies of murine catalase. Liver and erythrocyte catalase controlled by independent loci.
Volume: 65
Issue: 5
Pages: 277-9
Publication
First Author: Robinson PJ
Year: 1981
Journal: Immunogenetics
Title: Location of the mouse beta 2-microglobulin gene B2m determined by linkage analysis.
Volume: 14
Issue: 5
Pages: 449-52
Publication
First Author: Middleton RJ
Year: 1987
Journal: Genet Res
Title: A new regulatory gene in the histidine decarboxylase gene complex determines the responsiveness of the mouse kidney enzyme to testosterone.
Volume: 49
Issue: 1
Pages: 61-7
Publication
First Author: McLaughlin ME
Year: 1995
Journal: Proc Natl Acad Sci U S A
Title: Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
Volume: 92
Issue: 8
Pages: 3249-53
Publication  
First Author: Roberts E
Year: 1935
Journal: Am Naturalist
Title: Linkage of the genes for non-yellow (y) and pink-eye (p2) in the house mouse (Mus musculus).
Volume: 69
Pages: 181-3
Publication
First Author: Yang Q
Year: 2012
Journal: Traffic
Title: The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.
Volume: 13
Issue: 8
Pages: 1160-9
Publication
First Author: Li W
Year: 2003
Journal: Nat Genet
Title: Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Volume: 35
Issue: 1
Pages: 84-9
Publication
First Author: Nazarian R
Year: 2006
Journal: Biochem J
Title: Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein.
Volume: 395
Issue: 3
Pages: 587-98
Publication
First Author: Orn A
Year: 1982
Journal: Scand J Immunol
Title: Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity.
Volume: 15
Issue: 3
Pages: 305-10
Publication
First Author: Hoyle DJ
Year: 2011
Journal: Pigment Cell Melanoma Res
Title: Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation.
Volume: 24
Issue: 2
Pages: 275-81
Publication
First Author: Ma J
Year: 2016
Journal: J Genet Genomics
Title: BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells.
Volume: 43
Issue: 12
Pages: 686-693
Publication
First Author: Wei AH
Year: 2013
Journal: J Invest Dermatol
Title: Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
Volume: 133
Issue: 7
Pages: 1834-40
Publication
First Author: Xie T
Year: 2009
Journal: Cancer Res
Title: Multidrug resistance decreases with mutations of melanosomal regulatory genes.
Volume: 69
Issue: 3
Pages: 992-9
Publication
First Author: Sitaram A
Year: 2012
Journal: Mol Biol Cell
Title: Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes.
Volume: 23
Issue: 16
Pages: 3178-92
Publication
First Author: Ong CJ
Year: 1999
Journal: Cell Immunol
Title: A role for T helper 2 cells in mediating skin fibrosis in tight-skin mice.
Volume: 196
Issue: 1
Pages: 60-8
Publication
First Author: Kook S
Year: 2018
Journal: Am J Respir Cell Mol Biol
Title: Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes.
Volume: 58
Issue: 5
Pages: 566-574
Publication
First Author: Mantegazza AR
Year: 2012
Journal: Immunity
Title: Adaptor protein-3 in dendritic cells facilitates phagosomal toll-like receptor signaling and antigen presentation to CD4(+) T cells.
Volume: 36
Issue: 5
Pages: 782-94
Publication
First Author: Jones SM
Year: 2004
Journal: Hear Res
Title: Gravity receptor function in mice with graded otoconial deficiencies.
Volume: 191
Issue: 1-2
Pages: 34-40
Publication
First Author: Newell-Litwa K
Year: 2010
Journal: J Neurosci
Title: Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampus.
Volume: 30
Issue: 3
Pages: 820-31
Publication  
First Author: Maltais L
Year: 1983
Journal: Mouse News Lett
Title: Anorexia (anx)
Volume: 68
Pages: 72
Publication
First Author: Maltais LJ
Year: 1984
Journal: J Hered
Title: Anorexia, a recessive mutation causing starvation in preweanling mice.
Volume: 75
Issue: 6
Pages: 468-72
Publication
First Author: West JD
Year: 1986
Journal: Mutat Res
Title: Further experience of the mouse dominant cataract mutation test from an experiment with ethylnitrosourea.
Volume: 164
Issue: 2
Pages: 127-36
Publication
First Author: Green MC
Year: 1976
Journal: Am J Pathol
Title: Tight-skin, a new mutation of the mouse causing excessive growth of connective tissue and skeleton.
Volume: 82
Issue: 3
Pages: 493-512
Publication
First Author: Alexander JJ
Year: 2008
Journal: Neurochem Int
Title: TNF is a key mediator of septic encephalopathy acting through its receptor, TNF receptor-1.
Volume: 52
Issue: 3
Pages: 447-56
Publication
First Author: Matsushita T
Year: 2007
Journal: J Invest Dermatol
Title: BAFF antagonist attenuates the development of skin fibrosis in tight-skin mice.
Volume: 127
Issue: 12
Pages: 2772-80
Publication
First Author: Sgonc R
Year: 1999
Journal: Arthritis Rheum
Title: Lack of endothelial cell apoptosis in the dermis of tight skin 1 and tight skin 2 mice.
Volume: 42
Issue: 3
Pages: 581-4
Publication
First Author: Lemaire R
Year: 2004
Journal: J Invest Dermatol
Title: Fibulin-2 and fibulin-5 alterations in tsk mice associated with disorganized hypodermal elastic fibers and skin tethering.
Volume: 123
Issue: 6
Pages: 1063-9
Publication
First Author: Pedroza M
Year: 2017
Journal: PLoS One
Title: Targeting of cadherin-11 decreases skin fibrosis in the tight skin-1 mouse model.
Volume: 12
Issue: 11
Pages: e0187109
Publication
First Author: Lemaire R
Year: 2010
Journal: J Invest Dermatol
Title: Antagonistic effect of the matricellular signaling protein CCN3 on TGF-beta- and Wnt-mediated fibrillinogenesis in systemic sclerosis and Marfan syndrome.
Volume: 130
Issue: 6
Pages: 1514-23
Publication
First Author: Griesenbach U
Year: 2008
Journal: Am J Respir Cell Mol Biol
Title: Validation of nasal potential difference measurements in gut-corrected CF knockout mice.
Volume: 39
Issue: 4
Pages: 490-6
Publication
First Author: Meng R
Year: 2015
Journal: Blood
Title: Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models.
Volume: 125
Issue: 10
Pages: 1623-32
Publication
First Author: Meng R
Year: 2012
Journal: Blood
Title: SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models.
Volume: 120
Issue: 2
Pages: 404-14
Publication
First Author: White RA
Year: 1992
Journal: Nat Genet
Title: The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene.
Volume: 2
Issue: 1
Pages: 80-3
Publication
First Author: Larimore J
Year: 2013
Journal: PLoS One
Title: MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons.
Volume: 8
Issue: 6
Pages: e65069
Publication
First Author: Andrews SJ
Year: 1983
Journal: Biochem Genet
Title: Linkage analyses and biochemical genetics of sorbitol dehydrogenase-1 (Sdh-1) in the mouse.
Volume: 21
Issue: 7-8
Pages: 809-17
Publication
First Author: Taylor BA
Year: 1987
Journal: Biochem Genet
Title: Localization of the inosine triphosphatase locus (Itp) on chromosome 2 of the mouse.
Volume: 25
Issue: 3-4
Pages: 267-74
Publication
First Author: Falcón-Pérez JM
Year: 2005
Journal: J Cell Sci
Title: Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3.
Volume: 118
Issue: Pt 22
Pages: 5243-55
Publication  
First Author: Fisher RA
Year: 1953
Journal: Am Naturalist
Title: Sex differences of crossing-over in close linkage.
Volume: 87
Pages: 116
Publication
First Author: Starcevic M
Year: 2004
Journal: J Biol Chem
Title: Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).
Volume: 279
Issue: 27
Pages: 28393-401
Publication
First Author: Setty SR
Year: 2007
Journal: Mol Biol Cell
Title: BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.
Volume: 18
Issue: 3
Pages: 768-80
Publication
First Author: Gwynn B
Year: 2004
Journal: Blood
Title: Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.
Volume: 104
Issue: 10
Pages: 3181-9
Publication
First Author: Chan WT
Year: 2008
Journal: PLoS One
Title: Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosis.
Volume: 3
Issue: 7
Pages: e2713
Publication
First Author: Truman-Rosentsvit M
Year: 2018
Journal: Blood
Title: Ferritin is secreted via 2 distinct nonclassical vesicular pathways.
Volume: 131
Issue: 3
Pages: 342-352
Publication
First Author: Yuan Y
Year: 2021
Journal: Blood
Title: A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules.
Volume: 137
Issue: 13
Pages: 1804-1817
Publication
First Author: Bossi G
Year: 2005
Journal: Traffic
Title: Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV.
Volume: 6
Issue: 3
Pages: 243-51
Publication
First Author: Swank RT
Year: 1998
Journal: Pigment Cell Res
Title: Mouse models of Hermansky Pudlak syndrome: a review.
Volume: 11
Issue: 2
Pages: 60-80
Publication  
First Author: Swank RT
Year: 2000
Journal: Pigment Cell Res
Title: Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome.
Volume: 13 Suppl 8
Pages: 59-67