Hemochromatosis type 3 | definition of hemochromatosis type 3 by Medical dictionary
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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.
Farlex Partner Medical Dictionary © Farlex 2012
Mentioned in
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classic hemochromatosis
hemochromatosis type 4
HFE2
juvenile hemochromatosis
References in periodicals archive
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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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