Wilson disease in two consecutive generations: An exceptional family

American Journal of Gastroenterology

Volumn 96, Issue 7, 2001, Pages 2269-2271

  Firneisz, Gábor ^a   Szönyi, László ^a   Ferenci, Péter ^b   Görög, Dénes ^a   Nemes, Balázs ^a   Szalay, Ferenc ^a  

^a SEMMELWEIS UNIVERSITY   (Hungary)

^b Allgemeine Krankenhaus   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; COPPER; PENICILLAMINE;

ADOLESCENT; ADULT; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; COPPER METABOLISM; FEMALE; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; LETTER; LIVER TRANSPLANTATION; MALE; PEDIGREE ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TREMOR; URINARY EXCRETION; WILSON DISEASE;

EID: 0034936460     PISSN: 00029270     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9270(01)02546-1     Document Type: Letter

References (5)

1. Wilson's disease
2. The Wilson's disease gene and phenotypic diversity
3. Gene mutation (His1069Gln) and psychometric investigations in Hungarian patients with Wilson's disease
4. Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction