HLA-A3-B14 and the origin of the haemochromatosis C282Y mutation: Founder effects and recombination events during 12 generations in a Scandinavian family with major iron overload

European Journal of Haematology

Volumn 84, Issue 2, 2010, Pages 145-153

  Olsson, K Sigvard ^a   Ritter, Bernd ^b   Raha Chowdhury, Ruma ^c  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b ÖSTERSUND HOSPITAL   (Sweden)

^c CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Ferritin; Genealogy; Haemochromatosis; HFE mutation (H, human; Fe, iron); Human leucocyte antigen; Iron overload; Pedigrees; Recombinations

Indexed keywords

HLA A3 ANTIGEN; HLA A3 B7 ANTIGEN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; FAMILY STUDY; FEMALE; FERRITIN BLOOD LEVEL; FOUNDER EFFECT; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENEALOGY; GENETIC RECOMBINATION; HAPLOTYPE; HEMOCHROMATOSIS; HOMOZYGOTE; HUMAN; HUMAN TISSUE; IRON OVERLOAD; LIVER CIRRHOSIS; LIVER FIBROSIS; LIVER INJURY; MALE; PEDIGREE; PHENOTYPE; POPULATION DENSITY; POPULATION GENETICS; POPULATION RESEARCH; PRIORITY JOURNAL; PROGENY; SWEDEN; TELOMERE;

ALLELES; AMINO ACID SUBSTITUTION; FAMILY; FEMALE; FOLLOW-UP STUDIES; FOUNDER EFFECT; HAPLOTYPES; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA-A3 ANTIGEN; HOMOZYGOTE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; PEDIGREE; RECOMBINATION, GENETIC; SWEDEN;

EID: 74049163216     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2009.01376.x     Document Type: Article

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