Title : Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma.

Pub. Date : 2006 May-Jun

PMID : 16540354






1 Functional Relationships(s)
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1 We thus detected the novel TFR2 missense mutation I449V (exon 10; nt 1345 A --> G) in the proband"s wife and daughter, neither of whom had anemia or iron overload. Iron transferrin receptor 2 Homo sapiens