Article
Transferrin receptor mutation analysis in hereditary hemochromatosis patients.
Blood cells, molecules & diseases - 1 Sept 1998
Tsuchihashi Z, Hansen S L, Quintana L, Kronmal G S, Mapa F A, Feder J N, Wolff R K
Abstract excerpt
The Cys282-->Tyr mutation in the HFE gene is carried by the majority of hereditary hemochromatosis patient chromosomes, yet some patients do not seem to harbor any mutation in this gene. This suggests a possibility that these patients may have a mutation in other genes in the same pathway as HFE. We analyzed the cDNA sequences of transferrin receptor (TFR), which was recently shown to interact with HFE, in...
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