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Compound heterozygous C282Y/Q283P and Q283P/H63D mutations in haemochromatosis.

作者信息

van Gammeren Adriaan, de Baar Ellen, Schrauwen Lianne, van Wijngaarden Peter

机构信息

Department of Clinical Chemistry and Haematology, Breda, the Netherlands.

Department of Internal Medicine, Amphia Hospital, Breda, the Netherlands.

出版信息

Br J Haematol. 2015 Nov;171(4):650-1. doi: 10.1111/bjh.13417. Epub 2015 Apr 8.

DOI:10.1111/bjh.13417
PMID:25850353
Abstract
摘要

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Compound heterozygous C282Y/Q283P and Q283P/H63D mutations in haemochromatosis.血色素沉着症中的复合杂合子C282Y/Q283P和Q283P/H63D突变
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The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.HFE基因中Q283P氨基酸变化所导致的结构和功能后果，与针对突变的282Y HFE蛋白所描述的后果相似。
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