Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: Molecular dynamics and biochemical studies

Blood Cells, Molecules, and Diseases

Volumn 52, Issue 1, 2014, Pages 27-34

  Cézard, Christine ^a   Rabbind Singh, Amrathlal ^b   Le Gac, Gérald ^c   Gourlaouen, Isabelle ^c   Ferec, Claude ^c   Rochette, Jacques ^b  

^a UNIVERSITÉ DE PICARDIE JULES VERNE   (France)

^b AMIENS UNIVERSITY HOSPITAL   (France)

^c UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

Author keywords

Compound heterozygosity; Disulfide bridge; Hemochromatosis; HFER226G variant; Molecular dynamics

Indexed keywords

BETA 2 MICROGLOBULIN; CD71 ANTIGEN; FERRITIN; HFE PROTEIN; TRANSFERRIN;

ADULT; ALLELE; ARTICLE; CASE REPORT; CHEMICAL BOND; CONTROLLED STUDY; DISULFIDE BOND; ENERGY; FERRITIN BLOOD LEVEL; GENE; GENETIC SCREENING; HEMOCHROMATOSIS; HETEROZYGOSITY; HFE GENE; HUMAN; HYDROPHOBICITY; IRON OVERLOAD; MALE; MISSENSE MUTATION; MOLECULAR DYNAMICS; MOLECULAR GENETICS; MUTAGENESIS; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN LOCALIZATION; PROTEIN SECONDARY STRUCTURE; SALT BRIDGE FORMATION; SEQUENCE ANALYSIS; SOLVATION FREE ENERGY; TRANSFERRIN BLOOD LEVEL;

COMPOUND HETEROZYGOSITY; DISULFIDE BRIDGE; HEMOCHROMATOSIS; HFE(R226G) VARIANT; MOLECULAR DYNAMICS;

ADULT; ALLELES; ANTIGENS, CD; BETA 2-MICROGLOBULIN; DISULFIDES; GENE EXPRESSION; HEMOCHROMATOSIS; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; HYDROPHOBIC AND HYDROPHILIC INTERACTIONS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR DYNAMICS SIMULATION; MUTATION; PROTEIN BINDING; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, TRANSFERRIN; SEVERITY OF ILLNESS INDEX; THERMODYNAMICS;

EID: 84888388813     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2013.07.011     Document Type: Article

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