His1069Gln and six novel Wilson disease mutations: Analysis of relevance for early diagnosis and phenotype

European Journal of Human Genetics

Volumn 6, Issue 6, 1998, Pages 616-623

  Ha Hao, Duc ^a   Hefter, Harald ^a   Stremmel, Wolfgang ^a,b   Castañeda Guillot, Carlos ^c   Hernández Hernández, Ana ^c   Cox, Diane W ^d,e   Auburger, Georg ^a,f  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c INSTITUTO DE GASTROENTEROLOGÍA   (Cuba)

^d HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^e UNIVERSITY OF ALBERTA   (Canada)

^f NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Haplotypes; Mutation analysis; Single strand conformation polymorphism (SSCP); Wilson disease

Indexed keywords

ADENOSINE TRIPHOSPHATASE; COPPER;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EARLY DIAGNOSIS; FEMALE; GENE MUTATION; HAPLOTYPE; HOMOZYGOTE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; STOP CODON; WILSON DISEASE;

EID: 0032406019     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200237     Document Type: Article

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