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.

3 Hemochromatosis Type 2 Type 2A HJV Hemojuvelin 1q21 Type 2B HAMP Hepcidin 19q13 Hemochromatosis Type 3 TFR2 Transferrin receptor 2 7q22 Hemochromatosis Type 4 SLC40A1 Ferroportin 2q32 Disorder Treatment Hemochromatosis Type 1 Phlebotomy, iron chelating therapy Hemochromatosis Type 2 Phlebotomy, iron chelating therapy Type 2A Type 2B Hemochromatosis Type 3 Phlebotomy, iron chelating therapy Hemochromatosis Type 4 Phlebotomy, erythropoietin

Hereditary hemochromatosis

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

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.

Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC

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