G80S-linked ferroportin disease: Classical ferroportin disease in an Asian family and reclassification of the mutant as iron transport defective

Journal of Hepatology

Volumn 54, Issue 3, 2011, Pages 538-544

  McDonald, Cameron J ^a   Wallace, Daniel F ^a   Ostini, Lesa ^a   Bell, Sally J ^b   Demediuk, Barbara ^b   Subramaniam, V Nathan ^a,c  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b ST VINCENT S HOSPITAL   (Australia)

^c UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

Autosomal dominant; Haemochromatosis; Hepcidin; Iron overload; Mutation analysis

Indexed keywords

FERROPORTIN;

ADULT; AGED; ARTICLE; ASIAN; CASE REPORT; CYTOLYSIS; DISEASE CLASSIFICATION; DNA SEQUENCE; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERFERRITINEMIA; IRON TRANSPORT; LABORATORY TEST; LIVER BIOPSY; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SUBSTITUTION REACTION; VIET NAM;

ADULT; AGED; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CATION TRANSPORT PROTEINS; CELL LINE; DNA PRIMASE; FEMALE; FERRITINS; GENETIC ASSOCIATION STUDIES; HUMANS; IRON; IRON OVERLOAD; MALE; MUTANT PROTEINS; MUTATION, MISSENSE; RECOMBINANT PROTEINS; TRANSFECTION; VIETNAM; YOUNG ADULT;

EID: 79951670710     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jhep.2010.07.048     Document Type: Article

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