Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: Novel observations

British Journal of Haematology

Volumn 162, Issue 2, 2013, Pages 278-281

  Bardou Jacquet, Edouard ^a,b   Cunat, Severine ^c   Beaumont Epinette, Marie Pascale ^b   Kannengiesser, Caroline ^d   Causse, Xavier ^e   Sauvion, Sylvie ^f   Pouliquen, Bruno ^g   Deugnier, Yves ^a,b   David, Veronique ^b   Loréal, Olivier ^a,b   Aguilar Martinez, Patricia ^c   Brissot, Pierre ^a,b   Jouanolle, Anne marie ^b  

^a UNIVERSITÉ DE RENNES 1   (France)

^b RENNES UNIVERSITY HOSPITAL   (France)

^c MONTPELLIER UNIVERSITY HOSPITAL   (France)

^d BICHAT HOSPITAL   (France)

^e Regional Hospital of Orleans   (France)

^f HÔPITAL JEAN VERDIER   (France)

^g Centre Médical Saint Augustin   (France)

Author keywords

Haemochromatosis; Iron overload; Juvenile; Transferrin receptor 2

Indexed keywords

FERROPORTIN; HEMOJUVELIN; TRANSFERRIN; TRANSFERRIN RECEPTOR 2;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTHROPATHY; ASTHENIA; CHILD; CLINICAL ARTICLE; COMPUTER MODEL; DISEASE SEVERITY; FEMALE; GENE; GENE SEQUENCE; GENETIC SCREENING; HAMP GENE; HEMOCHROMATOSIS; HETEROZYGOTE; HFE2 GENE; HOMOZYGOTE; HUMAN; HYPERTRANSAMINASEMIA; LETTER; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SCHOOL CHILD; SLC40A1 GENE; TRANSFERRIN RECEPTOR 2 GENE; TYPE 3 HEMOCHROMATOSIS;

HAEMOCHROMATOSIS; IRON OVERLOAD; JUVENILE; TRANSFERRIN RECEPTOR 2;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; FEMALE; HEMOCHROMATOSIS; HUMANS; MALE; RECEPTORS, TRANSFERRIN; YOUNG ADULT;

EID: 84879842417     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.12350     Document Type: Letter

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