Haplotype study in Dutch SCA3 and SCA6 families: Evidence for common founder mutations

European Journal of Human Genetics

Volumn 12, Issue 6, 2004, Pages 441-446

  Verbeek, Dinake S ^a   Piersma, Sytse J ^a   Hennekam, Eric F A M ^a   Ippel, Elly F ^a   Pearson, Peter L ^a   Sinke, Richard J ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Founder mutations; SCA3; SCA6; Shared haplotype analysis; Spinocerebellar ataxia

Indexed keywords

ALANINE; CYSTEINE; GLYCINE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CONTROLLED STUDY; DEGENERATIVE DISEASE; FAMILY STUDY; FOUNDER EFFECT; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC MARKER; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; NETHERLANDS; PILOT STUDY; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

CALCIUM CHANNELS; FAMILY; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MACHADO-JOSEPH DISEASE; MALE; MEMBRANE GLYCOPROTEINS; MICROFILAMENT PROTEINS; MUTATION; NERVE TISSUE PROTEINS; NETHERLANDS; NUCLEAR PROTEINS; PILOT PROJECTS; REPRESSOR PROTEINS; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION;

ATAXIA;

EID: 3142727808     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201167     Document Type: Article

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