Two families with Wilson disease in which siblings showed different phenotypes

Journal of Human Genetics

Volumn 47, Issue 10, 2002, Pages 543-547

  Takeshita, Y ^a   Shimizu, N ^a   Yamaguchi, Y ^a   Nakazono, H ^a   Saitou, M ^a   Fujikawa, Y ^a   Aoki, T ^a  

^a TOHO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

ATP7B; Gene analysis; Hepatic type; Neurological type; Sibling cases; Wilson disease

Indexed keywords

COPPER; GENE PRODUCT; UNCLASSIFIED DRUG; WILSON DISEASE PROTEIN;

ADULT; ALLELE; ARTICLE; CASE REPORT; COPPER METABOLISM; DISEASE ASSOCIATION; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HEREDITY; HETEROZYGOSITY; HUMAN; LIVER CELL; LIVER DISEASE; MALE; NEUROLOGIC DISEASE; ONSET AGE; PHENOTYPE; PROTEIN EXPRESSION; SIBLING; TOXICITY; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; CATION TRANSPORT PROTEINS; CHILD; COPPER; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE; HUMANS; LIVER; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE;

EID: 0036032162     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200082     Document Type: Article

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