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Search results 101 to 174 out of 174 for Clcn5

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Type Details Score
Publication
17110406 | J:140607
First Author: Jentsch TJ
Year: 2007
Journal: J Physiol
Title: Chloride and the endosomal-lysosomal pathway: emerging roles of CLC chloride transporters.
Volume: 578
Issue: Pt 3
Pages: 633-40
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Publication
19339555 | J:150503
First Author: Mohammad-Panah R
Year: 2009
Journal: J Cell Sci
Title: An essential role for ClC-4 in transferrin receptor function revealed in studies of fibroblasts derived from Clcn4-null mice.
Volume: 122
Issue: Pt 8
Pages: 1229-37
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Publication
9215685 | J:42890
First Author: Montini E
Year: 1997
Journal: Hum Mol Genet
Title: A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin.
Volume: 6
Issue: 7
Pages: 1137-45
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Publication
38458200 | J:346696
     
First Author: Wei C
Year: 2024
Journal: Mol Cell
Title: Imprinted X chromosome inactivation at the gamete-to-embryo transition.
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Publication
8530041 | J:26635
First Author: Blair HJ
Year: 1995
Journal: Genomics
Title: High-resolution comparative mapping of the proximal region of the mouse X chromosome.
Volume: 28
Issue: 2
Pages: 305-10
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Publication
9722947 | J:49565
First Author: de Conciliis L
Year: 1998
Journal: Genomics
Title: Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.
Volume: 51
Issue: 2
Pages: 243-50
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Publication
23115349 | J:195944
First Author: Arnaiz I
Year: 2013
Journal: Reproduction
Title: Changing expression of chloride channels during preimplantation mouse development.
Volume: 145
Issue: 1
Pages: 73-84
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Publication
10857745 | J:62168
First Author: Means GD
Year: 2000
Journal: Genomics
Title: A transcript map of a 2-Mb BAC contig in the proximal portion of the mouse X chromosome and regional mapping of the scurfy mutation.
Volume: 65
Issue: 3
Pages: 213-23
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Publication
28077597 | J:238260
 
First Author: Liu TY
Year: 2017
Journal: Open Biol
Title: Muscle developmental defects in heterogeneous nuclear Ribonucleoprotein A1 knockout mice.
Volume: 7
Issue: 1
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Publication
30590051 | J:271120
First Author: Scavuzzo MA
Year: 2018
Journal: Cell Rep
Title: Pancreatic Cell Fate Determination Relies on Notch Ligand Trafficking by NFIA.
Volume: 25
Issue: 13
Pages: 3811-3827.e7
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Publication
16319116 | J:104891
First Author: Osafune K
Year: 2006
Journal: Development
Title: Identification of multipotent progenitors in the embryonic mouse kidney by a novel colony-forming assay.
Volume: 133
Issue: 1
Pages: 151-61
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Publication
25798587 | J:232973
First Author: Hirst CS
Year: 2015
Journal: PLoS One
Title: Ion channel expression in the developing enteric nervous system.
Volume: 10
Issue: 3
Pages: e0123436
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Publication
16985003 | J:119550
First Author: Harrell MD
Year: 2007
Journal: Physiol Genomics
Title: Large-scale analysis of ion channel gene expression in the mouse heart during perinatal development.
Volume: 28
Issue: 3
Pages: 273-83
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Publication
- | J:165963
     
First Author: Centre for Modeling Human Disease
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the NorCOMM project by the Centre for Modeling Human Disease (Cmhd), Institute of Biomaterials & Biomedical Engineering, University of Toronto
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Publication
19521566 | J:177549
First Author: Willnow T
Year: 2005
Journal: Organogenesis
Title: The European renal genome project: an integrated approach towards understanding the genetics of kidney development and disease.
Volume: 2
Issue: 2
Pages: 42-7
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Publication
- | J:73065
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
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Publication
- | J:81858
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: Data Curation Using Mouse Genome Assembly
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Publication
- | J:346132
       
First Author: The Gene Ontology Consortium
Year: 2016
Title: Automatic assignment of GO terms using logical inference, based on on inter-ontology links
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Publication
- | J:57656
     
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
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Publication
- | J:171409
     
First Author: GUDMAP Consortium
Year: 2004
Journal: www.gudmap.org
Title: GUDMAP: the GenitoUrinary Development Molecular Anatomy Project
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication
- | J:342604
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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Publication
- | J:155856
       
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
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Publication
- | J:85000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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Publication
11217851 | J:65060
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
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Publication
14610273 | J:86696
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
- | J:141210
     
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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Publication
- | J:60000
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
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Publication
- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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Publication
12466851 | J:80000
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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Publication
- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Allele
Clcn5<tm1Gug> | MGI:2181017
Name: chloride channel, voltage-sensitive 5; targeted mutation 1, William B Guggino
Allele Type: Targeted
Attribute String: Null/knockout
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HT Experiment
E-GEOD-10162 | Transcription profiling of mouse Clcn5 knockout in proximal tubules of the kidney
Series Id: GSE10162
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
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Publication
18349385 | -
First Author: Wright J
Year: 2008
Journal: Physiol Genomics
Title: Transcriptional adaptation to Clcn5 knockout in proximal tubules of mouse kidney.
Volume: 33
Issue: 3
Pages: 341-54
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HT Experiment
E-MEXP-495 | Transcription profiling by array of mouse Clcn5 knockout in kidney, bone and intestine
 
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
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DO Term
DOID:0080353 | X-linked recessive hypophosphatemic rickets
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Allele
Clcn5<tm1Tjj> | MGI:2181018
Name: chloride channel, voltage-sensitive 5; targeted mutation 1, Thomas J Jentsch
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
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Genotype
Genotype
Symbol: Clcn5/?
Background: B6.129-Clcn5
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Clcn5/?
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Zygosity: ot
Has Mutant Allele: true
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DO Term
DOID:0050699 | Dent disease
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Gene
4952 | OCRL
Type: gene
Organism: human
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DO Term
DOID:0111798 | X-linked nephrolithiasis type I
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DO Term
DOID:0111815 | low molecular weight proteinuria with hypercalciuric nephrocalcinosis
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Genotype
Genotype
Symbol: Inpp5b/Inpp5b Ocrl/Ocrl Tg(INPP5B)CNbm/?
Background: involves: 129S/SvEv * 129S6/SvEvTac * FVB/N
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Inpp5b/Inpp5b Ocrl/? Tg(INPP5B)CNbm/?
Background: involves: 129S/SvEv * 129S6/SvEvTac * FVB/N
Zygosity: cx
Has Mutant Allele: true
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Publication
8921395 | J:34210
First Author: Uwechue IC
Year: 1996
Journal: Genomics
Title: The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization.
Volume: 37
Issue: 2
Pages: 238-41
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Publication
8537381 | -
First Author: Steinmeyer K
Year: 1995
Journal: J Biol Chem
Title: Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease.
Volume: 270
Issue: 52
Pages: 31172-7
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Publication
9653142 | -
First Author: Günther W
Year: 1998
Journal: Proc Natl Acad Sci U S A
Title: ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells.
Volume: 95
Issue: 14
Pages: 8075-80
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Protein Domain
IPR002247 | Cl_channel-5
Type: Family
Description: Chloride channels (CLCs) constitute an evolutionarily well-conserved family of voltage-gated channels that are structurally unrelated to the other known voltage-gated channels. They are found in organisms ranging from bacteria to yeasts and plants, and also to animals. Their functions in higher animals likely include the regulation of cell volume, control of electrical excitability and trans-epithelial transport [].The first member of the family (CLC-0) was expression-cloned from the electric organ of Torpedo marmorata [], and subsequently nine CLC-like proteins have been cloned from mammals. They are thought to function as multimers of two or more identical or homologous subunits, and they have varying tissue distributions and functional properties. To date, CLC-0, CLC-1, CLC-2, CLC-4 and CLC-5 have been demonstrated to form functional Cl- channels; whether the remaining isoforms do so is either contested or unproven. One possible explanation for the difficulty in expressing activatable Cl- channels is that some of the isoforms may function as Cl- channels of intracellular compartments, rather than of the plasma membrane. However, they are all thought to have a similar transmembrane (TM) topology, initial hydropathy analysis suggesting 13 hydrophobic stretches long enough to form putative TM domains []. Recently, the postulated TM topology has been revised, and it now seems likely that the CLCs have 10 (or possibly 12) TM domains, with both N- and C-termini residing in the cytoplasm [].A number of human disease-causing mutations have been identified in the genes encoding CLCs. Mutations in CLCN1, the gene encoding CLC-1, the major skeletal muscle Cl- channel, lead to both recessively and dominantly-inherited forms of muscle stiffness or myotonia []. Similarly, mutations in CLCN5, which encodes CLC-5, a renal Cl- channel, lead to several forms of inherited kidney stone disease []. These mutations have been demonstrated to reduce or abolish CLC function.CLC-5, with 746 amino acid residues, is a member of the CLC family thatshows most similarity to the CLC-3 and CLC-4 channels, to which it is ~80%identical at the amino acid level. It is predominantly expressed in thekidney, but can be found in the brain and liver []. As mentioned above,mutations in the CLCN5 gene cause certain hereditary kidney stone diseases,including Dent's disease, an X-chromosome linked syndrome characterised byproteinuria, hypercalciuria, and kidney stones (nephrolithiasis), leading toprogressive renal failure. When the native protein is expressed, it givesrises to strongly outwardly-rectifying Cl-currents; however, the mutatedchannel forms show loss-of-function [, ]. Recent studies have suggestedthat CLC-5 may play an important role in endocytosis in renal proximaltubule cells (probably by providing a shunt for the potential generated bythe H+-ATPase), and that disruption of this function may impair endocytosis,accounting for the proteinuria observed in Dent's disease [].
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Publication
9873029 | -
First Author: Friedrich T
Year: 1999
Journal: J Biol Chem
Title: Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents.
Volume: 274
Issue: 2
Pages: 896-902
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Protein
Q9WVD4
Organism: Mus musculus/domesticus
Length: 816  
Fragment?: false
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Protein
Q3UL16
Organism: Mus musculus/domesticus
Length: 746  
Fragment?: false
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Protein
Q8CI67
Organism: Mus musculus/domesticus
Length: 746  
Fragment?: false
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Publication
9046241 | -
First Author: Jentsch TJ
Year: 1997
Journal: Bioessays
Title: Chloride channels: an emerging molecular picture.
Volume: 19
Issue: 2
Pages: 117-26
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Publication
7581380 | -
First Author: Lehmann-Horn F
Year: 1995
Journal: Hum Mol Genet
Title: Myotonia levior is a chloride channel disorder.
Volume: 4
Issue: 8
Pages: 1397-402
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Publication
2174129 | -
First Author: Jentsch TJ
Year: 1990
Journal: Nature
Title: Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes.
Volume: 348
Issue: 6301
Pages: 510-4
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Publication
8559248 | -
First Author: Lloyd SE
Year: 1996
Journal: Nature
Title: A common molecular basis for three inherited kidney stone diseases.
Volume: 379
Issue: 6564
Pages: 445-9
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Publication
9207144 | -
First Author: Schmidt-Rose T
Year: 1997
Journal: Proc Natl Acad Sci U S A
Title: Transmembrane topology of a CLC chloride channel.
Volume: 94
Issue: 14
Pages: 7633-8
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