Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis

Nature Genetics

Volumn 36, Issue 1, 2004, Pages 77-82

  Papanikolaou, George ^a   Samuels, Mark E ^b   Ludwig, Erwin H ^b   MacDonald, Marcia L E ^b   Franchini, Patrick L ^b   Dubé, Marie Pierre ^c   Andres, Lisa ^b   MacFarlane, Julie ^b   Sakellaropoulos, Nikos ^a   Politou, Marianna ^a   Nemeth, Elizabeta ^d   Thompson, Jay ^b   Risler, Jenni K ^b   Zaborowska, Catherine ^b   Babakaiff, Ryan ^b   Radomski, Christopher C ^b   Pape, Terry D ^b   Davidas, Owen ^b   Christakis, John ^e   Brissot, Pierre ^f   Lockitch, Gillian ^g   Ganz, Tomas ^d   Hayden, Michael R ^b,g   Goldberg, Y Paul ^b,g   more..

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b Xenon Genetics Inc   (Canada)

^c Xenon Genetics Research   (Canada)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e THEAGENIO CANCER HOSPITAL   (Greece)

^f UNIVERSITÉ DE RENNES 1   (France)

^g UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOJUVELIN; HEPCIDIN; HFE PROTEIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 1Q; CLINICAL ARTICLE; GENE EXPRESSION REGULATION; GENE MUTATION; HEART; HEMOCHROMATOSIS; HUMAN; IRON OVERLOAD; LIVER; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SKELETAL MUSCLE; TISSUE DISTRIBUTION;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 1; HEMOCHROMATOSIS; HUMANS; IRON OVERLOAD; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 9144252017     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1274     Document Type: Article

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