Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene

European Journal of Pediatrics

Volumn 161, Issue 2, 2002, Pages 124-126

  Ohya, Kazuhiro ^a   Abo, Wataru ^a   Tamaki, Hisamitsu ^a   Sugawara, Chieko ^b   Endo, Tetsuya ^c   Nomachi, Shosuke ^d   Fukushi, Masaru ^d   Kinebuchi, Miyuki ^e   Matsuura, Akihiro ^e  

^a AOMORI PREFECTURAL CENTRAL HOSPITAL   (Japan)

^b SAPPORO MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

^d Sapporo City Institute of Public Health   (Japan)

^e FUJITA HEALTH UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CERULOPLASMIN; COPPER; PENICILLAMINE;

ADOLESCENT; ALLELE; ARTICLE; CASE REPORT; CELL DEGENERATION; CLINICAL FEATURE; CONSANGUINITY; DISEASE COURSE; EXON; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; LABORATORY TEST; LIVER BIOPSY; LIVER CELL; LIVER FUNCTION TEST; MALE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PROGNOSIS; SEVERITY OF ILLNESS INDEX; TIME FACTORS;

EID: 0036169996     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-001-0865-9     Document Type: Article

References (4)

1. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease
2. Histology of the liver in Wilson's disease. A study of 34 eases
3. Severe hepatic Wilson's disease in preschool-aged children
4. Mutations of ATP7B gene in Wilson disease in Japan: Identification of nine mutations and lack of clear founder effect in a Japanese population