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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References in periodicals archive ?
Another autosomal recessive disorder, hemochromatosis Type 3, is attributed to mutations in the TFR2 located in band region q22 on chromosome 7.
Mutations in transferrin receptor-2 in hemochromatosis type 3. Am J Hum Genet 2000;67(Suppl 2):A2159.