SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6

European Journal of Human Genetics

Volumn 11, Issue 8, 2003, Pages 629-632

  Zuhlke C H ^a   Spranger, M ^b   Spranger, S ^c   Voigt, R ^a   Lanz, M ^d   Gehlken, U ^a   Hinrichs, F ^a   Schwinger, E ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b Neurologisches Rehabilitationszentrum Friedehorst   (Germany)

^c Praxis fuer Humangenetik   (Germany)

^d Neurologische Klinik   (Germany)

Author keywords

CAG repeat expansion; Partial isodisomy; SCA17; TATA binding protein

Indexed keywords

GLUTAMINE; POLYGLUTAMINE; TATA BINDING PROTEIN;

ADULT; ARTICLE; CASE REPORT; DEMENTIA; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; EMBRYO DEATH; GENE LOCUS; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; NUCLEOTIDE REPEAT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SPINOCEREBELLAR DEGENERATION; UNIPARENTAL DISOMY;

ADULT; AGE OF ONSET; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 6; DEMENTIA; FEMALE; HOMOZYGOTE; HUMANS; MICROSATELLITE REPEATS; PEPTIDE INITIATION FACTORS; PEPTIDES; SPINOCEREBELLAR ATAXIAS; TATA-BINDING PROTEIN ASSOCIATED FACTORS; TRINUCLEOTIDE REPEAT EXPANSION;

EUKARYOTA;

EID: 0042921421     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201018     Document Type: Article

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