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A novel missense mutation c.470 A>C (p.D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinaemia
Author(s) -
Saja Khalid,
Bignell Patricia,
Robson Kathryn,
Provan Drew
Publication year - 2010
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/j.1365-2141.2010.08137.x
Subject(s) - ferroportin , transferrin saturation , hepcidin , hemochromatosis , ferritin , missense mutation , hamp , transferrin , hereditary hemochromatosis , mutation , medicine , biology , genetics , endocrinology , anemia , gene , serum ferritin