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Compound heterozygous C282Y/Q283P and Q283P/H63D mutations in haemochromatosis
Author(s) -
Gammeren Adriaan,
Baar Ellen,
Schrauwen Lianne,
Wijngaarden Peter
Publication year - 2015
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.13417
Subject(s) - compound heterozygosity , hemochromatosis , hereditary hemochromatosis , proband , missense mutation , transferrin saturation , medicine , cirrhosis , liver biopsy , mutation , gastroenterology , pathology , genetics , biopsy , anemia , iron deficiency , biology , gene
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