A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews
A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews
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England: BMJ Publishing Group LTD
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Language
English
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England: BMJ Publishing Group LTD
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BackgroundMutations in the NCF1 gene that encodes p47phox, a subunit of the NADPH oxidase complex, cause chronic granulomatous disease (CGD). In Kavkazi Jews, a c.579G>A (p.Trp193Ter) mutation in NCF1 is frequently found, leading to CGD. The same mutation is found in about 1% of Ashkenazi Jews, although Ashkenazi CGD patients with this mutation hav...
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Full title
A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews
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TN_cdi_proquest_miscellaneous_1989584973
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1989584973
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2017-105022
