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Article

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

Blood cells, molecules & diseases - 1 Dec 2015

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

Abstract excerpt

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 a founder effect for the mutation c.579G>A (p.Trp193Ter) in NCF1. We analyzed various genetic markers in the NCF1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26460255
DOI: 10.1016/j.bcmd.2015.07.014

Genes

NCF1

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