Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent

British Journal of Haematology

Volumn 125, Issue 5, 2004, Pages 674-678

  Le Gac, G ^a,b   Mons, F ^a,c   Jacolot, S ^a,d   Scotet, V ^a   Ferec C ^a,b,d   Frebourg T ^a,c  

^a INSERM   (France)

^b ETABLISSEMENT FRANÇAIS DU SANG   (France)

^c ROUEN UNIVERSITY HOSPITAL   (France)

^d UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

Author keywords

Hereditary hemochomatosis classification; Hereditary hemochromatosis type III; Iron overload onset; R105x novel mutation; TFR2 receptor function

Indexed keywords

HEPCIDIN;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME BANDING PATTERN; CLINICAL FEATURE; FEMALE; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; IRON METABOLISM; IRON OVERLOAD; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECESSIVE GENE; SIBLING;

ADOLESCENT; CODON, NONSENSE; FEMALE; HEMOCHROMATOSIS; HUMANS; IRON OVERLOAD; MALE; PEDIGREE; PHENOTYPE; RECEPTORS, TRANSFERRIN;

EID: 2942582341     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2004.04950.x     Document Type: Article

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