Common local founder effects for Wilson's disease and hereditary hemochromatosis; Mutation studies of a large family

Scandinavian Journal of Gastroenterology

Volumn 47, Issue 8-9, 2012, Pages 1014-1020

  Olsson, Karl Sigvard ^a   Wålinder, Olof ^b   Kindmark, Andreas ^c   Williams, Roger ^d  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b ÖSTERSUND HOSPITAL   (Sweden)

^c UPPSALA UNIVERSITY   (Sweden)

^d INSTITUTE OF HEPATOLOGY   (United Kingdom)

Author keywords

ATP7B mutations; Congenital spherocytosis; Hereditary hemochromatosis; Iron; Pedigrees; Wilson's disease

Indexed keywords

FERRITIN; WILSON DISEASE PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; FAMILY; FEMALE; FERRITIN BLOOD LEVEL; GENE MUTATION; HEMOCHROMATOSIS; HEREDITARY SPHEROCYTOSIS; HUMAN; HYPERTRANSAMINASEMIA; IRON OVERLOAD; MALE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SWEDEN; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; CATION TRANSPORT PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; FERRITINS; FOUNDER EFFECT; HEMOCHROMATOSIS; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; IRON; MALE; MEMBRANE PROTEINS; PEDIGREE; SWEDEN; TRANSFERRIN; YOUNG ADULT;

EID: 84865739426     PISSN: 00365521     EISSN: 15027708     Source Type: Journal    
DOI: 10.3109/00365521.2012.703240     Document Type: Article

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