Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: Founder effect or predisposing chromosome?

European Journal of Human Genetics

Volumn 16, Issue 7, 2008, Pages 841-847

  Craig, Kate ^a   Takiyama, Yoshihisa ^b   Soong, Bing Wen ^c   Jardim, Laura B ^d   Saraiva Pereira, Maria Luiza ^d   Lythgow, Kieren ^a   Morino, Hiroyuki ^e   Maruyama, Hirofumi ^e   Kawakami, Hideshi ^e   Chinnery, Patrick F ^a,f  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b JICHI MEDICAL UNIVERSITY   (Japan)

^c NATIONAL YANG MING UNIVERSITY   (Taiwan)

^d HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^e HIROSHIMA UNIVERSITY   (Japan)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; CALCIUM CHANNEL CACNA1A; NUCLEIC ACID BINDING PROTEIN; SPINOCEREBELLAR ATAXIA TYPE 6 PROTEIN;

ARTICLE; ATAXIA; CHROMOSOME ANALYSIS; CONTROLLED STUDY; CPG ISLAND; EUROPE; FAMILY; FAR EAST; FATHER; GENE LOCUS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HAPLOTYPE; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; PATHOGENICITY; PRIORITY JOURNAL; SOUTH AMERICA;

ALLELES; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN; CHROMOSOMES, HUMAN, PAIR 19; COMPUTATIONAL BIOLOGY; FAMILY; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; PEDIGREE; SPINOCEREBELLAR ATAXIAS;

EID: 45749103722     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.20     Document Type: Article

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