A founder effect for p47(phox)Trp193Ter chronic granulomatous disease in Kavkazi Jews

Chronic granulomatous disease (CGD) is a rare congenital immune deficiency caused by mutations in any of the five genes encoding NADPH oxidase subunits. One of these genes is NCF1, encoding the p47(phox) protein. A group of 39 patients, 14 of whom are of Kavkazi Jewish descent, was investigated for...

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Veröffentlicht in:	Blood cells, molecules, & diseases molecules, & diseases, 2015-12, Vol.55 (4), p.320-327
Hauptverfasser:	de Boer, Martin, Tzur, Shay, van Leeuwen, Karin, Dencher, Paula C D, Skorecki, Karl, Wolach, Baruch, Gavrieli, Ronit, Nasidze, Ivane, Stoneking, Mark, Tanck, Michael W T, Roos, Dirk
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles DNA Mutational Analysis Female Founder Effect Gene Frequency Gene Order Genetic Loci Genotype Granulomatous Disease, Chronic - genetics Haplotypes Humans Jews - genetics Male Microsatellite Repeats Mutation NADPH Oxidases - genetics Pedigree
Online-Zugang:	Volltext
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