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Volumn 35, Issue 5, 2001, Pages 575-581
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High prevalence of the h1069q mutation in east german patients with wilson disease: Rapid detection of mutations by limited sequencing and phenotype-genotype analysis
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Author keywords
ATP7B; East German population; Mutation screening; Wilson disease
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Indexed keywords
CERULOPLASMIN;
GENE PRODUCT;
UNCLASSIFIED DRUG;
WILSON DISEASE PROTEIN;
ADOLESCENT;
ADULT;
ARTICLE;
CERULOPLASMIN BLOOD LEVEL;
CONTROLLED STUDY;
CORRELATION FUNCTION;
EXON;
FEMALE;
GENE FREQUENCY;
GENE MUTATION;
GENE SEQUENCE;
GENETIC ANALYSIS;
GENETIC EPIDEMIOLOGY;
GENETIC SCREENING;
GENOTYPE;
GERMAN DEMOCRATIC REPUBLIC;
HOMOZYGOTE;
HUMAN;
LIVER BIOPSY;
MAJOR CLINICAL STUDY;
MALE;
NEUROLOGIC DISEASE;
PHENOTYPE;
POLYMERASE CHAIN REACTION;
PRIORITY JOURNAL;
RESTRICTION FRAGMENT LENGTH POLYMORPHISM;
SCHOOL CHILD;
SEQUENCE ANALYSIS;
WILSON DISEASE;
ADENOSINE TRIPHOSPHATASES;
AMINO ACID SUBSTITUTION;
CATION TRANSPORT PROTEINS;
COPPER;
EUROPEAN CONTINENTAL ANCESTRY GROUP;
EXONS;
GENOTYPE;
GERMANY;
HEPATOLENTICULAR DEGENERATION;
HETEROZYGOTE;
HOMOZYGOTE;
HUMANS;
MUTATION;
PHENOTYPE;
POLYMERASE CHAIN REACTION;
POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;
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EID: 0035171548
PISSN: 01688278
EISSN: None
Source Type: Journal
DOI: 10.1016/S0168-8278(01)00219-7 Document Type: Article |
Times cited : (147)
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References (35)
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