A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews.
| Author | |
|---|---|
| Abstract |
:
Mutations 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 have never been described. |
| Year of Publication |
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2018
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| Journal |
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Journal of medical genetics
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| Date Published |
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2018
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| ISSN Number |
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0022-2593
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| URL |
:
http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=29331982
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| DOI |
:
10.1136/jmedgenet-2017-105022
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| Short Title |
:
J Med Genet
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| Download citation |
