Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels

Glyceronephosphate O-acyltransferase (GNPAT) p.D519G (rs11558492) was identified as a genetic modifier correlated with more severe iron overload in hemochromatosis through whole-exome sequencing of HFE p.C282Y homozygotes with extreme iron phenotypes. We studied the prevalence of p.D519G in HFE p.C2...

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Vydáno v:Blood Cells Mol Dis
Hlavní autoři: Secondes, Eriza S., Wallace, Daniel F., Rishi, Gautam, McLaren, Gordon D., McLaren, Christine E., Chen, Wen-Pin, Ramm, Louise E., Powell, Lawrie W., Ramm, Grant A., Barton, James C., Subramaniam, V. Nathan
Médium: Artigo
Jazyk:Inglês
Vydáno: 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7786288/
https://ncbi.nlm.nih.gov/pubmed/32652459
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcmd.2020.102463
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