The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein

Human Genetics

Volumn 117, Issue 5, 2005, Pages 467-475

  Ka, Chandran ^a,b,c   Le Gac, Gérald ^a,b   Dupradeau, Francois Yves ^d   Rochette, Jacques ^d   Férec, Claude ^a,b,c  

^a INSERM   (France)

^b ETABLISSEMENT FRANÇAIS DU SANG   (France)

^c UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

^d UNIVERSITÉ DE PICARDIE JULES VERNE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BETA 2 MICROGLOBULIN; COMPLEMENTARY DNA; HFE PROTEIN; IRON; MUTANT PROTEIN; TETRACYCLINE; TRANSFERRIN RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; GENE MUTATION; GENE OVEREXPRESSION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; IRON OVERLOAD; IRON TRANSPORT; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN STRUCTURE; WILD TYPE;

ANTIGENS, CD; DNA, COMPLEMENTARY; HELA CELLS; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON; MEMBRANE PROTEINS; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; RECEPTORS, TRANSFERRIN; TRANSFECTION;

EID: 24144454235     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-1307-y     Document Type: Article

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