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Publication : Identification, characterization, and mapping of a mouse homolog of the gene mutated in Nijmegen breakage syndrome.

First Author  Vissinga CS Year  1999
Journal  Cytogenet Cell Genet Volume  87
Issue  1-2 Pages  80-4
PubMed ID  10640816 Mgi Jnum  J:59119
Mgi Id  MGI:1351052 Doi  10.1159/000015396
Citation  Vissinga CS, et al. (1999) Identification, characterization, and mapping of a mouse homolog of the gene mutated in Nijmegen breakage syndrome. Cytogenet Cell Genet 87(1-2):80-4
abstractText  The rare autosomal recessive disorder Nijmegen breakage syndrome (NBS) results from mutations in the NBS1 gene on human chromosome 8q21. A mouse homolog of the NBS1 gene was isolated and its nucleotide sequence determined. Somatic cell hybrid analysis and fluorescence in situ hybridization were used to map this gene, Nbn, to mouse chromosome band 4A. Northern blotting revealed comparable levels of Nbn transcripts in most tissues in the mouse. However, transcripts were elevated 10-20 fold in the testes, consistent with a possible role for the product of the Nbn gene in meiotic recombination. Copyright 1999 S. Karger AG, Basel
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