An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.

Human mutation

Volumn 29, Issue 1, 2008, Pages 206-

  Dupradeau, François Yves ^a   Pissard, Serge ^a   Coulhon, Marie Pierre ^a   Cadet, Estelle ^a   Foulon, Karine ^a   Fourcade, Christine ^a   Goossens, Michel ^a   Case, David Andrew ^a   Rochette, Jacques ^a  

^a UNIVERSITÉ DE PICARDIE JULES VERNE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CD71 ANTIGEN; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; LEUKOCYTE ANTIGEN; MEMBRANE PROTEIN; TRANSFERRIN RECEPTOR; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; CASE REPORT; CHEMICAL STRUCTURE; CHEMISTRY; GENETICS; HEMOCHROMATOSIS; HETEROZYGOTE; HUMAN; MALE; METABOLISM; MIDDLE AGED; MISSENSE MUTATION; PEDIGREE; STRUCTURE ACTIVITY RELATION;

ALLELES; AMINO ACID SUBSTITUTION; AMINO ACIDS; ANTIGENS, CD; BINDING SITES; HEMOCHROMATOSIS; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MODELS, MOLECULAR; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, TRANSFERRIN; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 38849194144     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9517     Document Type: Article

References (0)