hemochromatosis type 3

hemochromatosis type 3

an autosomal recessive disorder [MIM*604250] caused by a mutation in the gene TFR2 that encodes transferrin receptor-2 on 7q22.
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Another autosomal recessive disorder, hemochromatosis Type 3, is attributed to mutations in the TFR2 located in band region q22 on chromosome 7.
Hereditary hemochromatosis
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene.
Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload
Mutations in transferrin receptor-2 in hemochromatosis type 3. Am J Hum Genet 2000;67(Suppl 2):A2159.
Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC

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