Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes

BMC Medical Genetics

Volumn 6, Issue , 2005, Pages

  Zühlke, Christine ^a   Dalski, Andreas ^a   Schwinger, Eberhard ^a   Finckh, Ulrich ^b  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; TATA BINDING PROTEIN; GLUTAMIC ACID;

ADULT; AGED; ALLELE; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPARATIVE STUDY; FAMILY; FEMALE; FOUNDER EFFECT; GENE MUTATION; GENETIC STABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; MALE; ONSET AGE; PEDIGREE; PENETRANCE; SPINOCEREBELLAR DEGENERATION; ADULT CHILD; GENE FREQUENCY; GENETICS; MIDDLE AGED; PHENOTYPE;

ATAXIA;

ADULT; ADULT CHILDREN; AGED; ALLELES; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENOTYPE; GLUTAMIC ACID; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PENETRANCE; PHENOTYPE; SPINOCEREBELLAR ATAXIAS; SPINOCEREBELLAR DEGENERATIONS; TATA-BOX BINDING PROTEIN;

EID: 26444569294     PISSN: 14712350     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-6-27     Document Type: Article

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