Article
Hemochromatosis (HFE) gene splice site mutation IVS5+1 G/A in North American Vietnamese with and without phenotypic evidence of iron overload.
Translational research : the journal of laboratory and clinical medicine - 1 Feb 2007
Steiner Michael, Leiendecker-Foster Catherine, McLaren Gordon D, Snively Beverly M, McLaren Christine E, Adams Paul C, Eckfeldt John H
Abstract excerpt
Homozygosity for a novel hemochromatosis (HFE) gene splice site mutation (IVS5+1 G/A) was previously reported in a 48-year-old Vietnamese man residing in Germany who had an elevated serum ferritin (SF) and transferrin saturation (TS) and severe iron overload on liver biopsy. This mutation was not found in 222 controls of central European origin but has been found in Southeast Asians living in Vietnam without...
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