A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients

Blood Cells, Molecules, and Diseases

Volumn 40, Issue 3, 2008, Pages 334-338

  Swinkels, Dorine W ^a,b,c,d,e   Venselaar, Hanka ^a,b,c,d,e   Wiegerinck, Erwin T ^a,b,c,d,e   Bakker, Egbert ^a,b,c,d,e   Joosten, Irma ^a,b,c,d,e   Jaspers, Christian A J J ^a,b,c,d,e   Vasmel, Wies L ^a,b,c,d,e   Breuning, Martijn H ^a,b,c,d,e  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c CENTRAL MILITARY HOSPITAL   (Netherlands)

^d ONZE LIEVE VROUWE GASTHUIS   (Netherlands)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Genotype; Hemochromatosis; HFE; Iron

Indexed keywords

CYSTEINE; HFE PROTEIN; IRON REGULATORY FACTOR; LEUCINE; PROLINE; TYROSINE;

ADULT; ALPHA HELIX; ARTICLE; BIOINFORMATICS; CONTROLLED STUDY; EXON; HAPLOTYPE; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; INHERITANCE; IRON OVERLOAD; MAJOR CLINICAL STUDY; MALE; MUTATION; PARAMETER; PRIORITY JOURNAL; PROTEIN INTERACTION; SIGNAL TRANSDUCTION;

ADULT; EXONS; HAPLOTYPES; HEMOCHROMATOSIS; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON; MALE; MEMBRANE PROTEINS; MUTATION; NETHERLANDS;

EID: 41949092301     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2007.10.003     Document Type: Article

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