Article
Human transferrin G277S mutation: a risk factor for iron deficiency anaemia.
British journal of haematology - 1 Nov 2001
Lee P L, Halloran C, Trevino R, Felitti V, Beutler E
Abstract excerpt
Numerous polymorphisms of the transferrin gene result in a range of electrophoretic variants. We show that one of these mutations has a functional consequence. A G-->A mutation at cDNA nucleotide 829 (G277S) was associated with a reduction in total iron binding capacity (TIBC). In menstruating white women, the G277S genotype was a risk factor for iron deficiency anaemia: iron deficiency anaemia was present in 27%...
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