Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes

Clinical Genetics

Volumn 58, Issue 1, 2000, Pages 69-73

  Kato, Takeshi ^a   Tanaka, Fumiaki ^b   Yamamoto, Masahiko ^b   Yosida, Eiji ^a   Indo, Toshikatsu ^a   Watanabe, Hidetaka ^b   Yoshiwara, Tsuyoshi ^b   Doyu, Manabu ^b   Sobue, Gen ^b  

^a Kasugai Municipal Hospital   (Japan)

^b NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

CAG repeat; Gene dosage effect; Homozygotes; Phenotypic expression; Spinocerebellar ataxia type 6

Indexed keywords

TRINUCLEOTIDE;

ADULT; AGED; ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENE DOSAGE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SPINOCEREBELLAR ATAXIA; TRINUCLEOTIDE REPEAT;

ADULT; AGE OF ONSET; AGED; CALCIUM CHANNELS; DNA; FEMALE; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; NUCLEAR FAMILY; PEDIGREE; POLYMERASE CHAIN REACTION; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION;

ATAXIA;

EID: 0033941398     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.580112.x     Document Type: Article

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