Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype

• Published in: Journal of medical genetics Vol. 41; no. 3; pp. 230 - 232
• Main Authors: Bauer, P, Laccone, F, Rolfs, A, Wüllner, U, Bösch, S, Peters, H, Liebscher, S, Scheible, M, Epplen, J T, Weber, B H F, Holinski-Feder, E, Weirich-Schwaiger, H, Morris-Rosendahl, D J, Andrich, J, Riess, O
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-03-2004; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: ADCA; Ataxia; autosomal dominant cerebellar ataxia; Base Sequence; Biological and medical sciences; Chromosomes; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Dementia; European Continental Ancestry Group - genetics; Family medical history; Genealogy; Genetic testing; Genotype; Genotype & phenotype; HD-like; Humans; Huntington Disease - genetics; Huntington Disease - physiopathology; Huntingtons disease; Huntington’s disease; Huntington’s disease-like; JPH3; Junctophilin-3 gene; Laboratories; Letter to JMG; Medical sciences; Mutation; Neurology; Patients; Phenotype; prion protein; PRNP; Proteins; Psychosis; SCA; SCA17; spinocerebellar ataxia; TATA binding protein; TATA-Box Binding Protein - genetics; TBP; Trinucleotide Repeat Expansion - genetics; Austria; Germany; Human; Nervous system diseases; Phenotype; Trinucleotide; Central nervous system disease; Huntington disease; Degenerative disease; Expansion; Cerebral disorder; Extrapyramidal syndrome; Genetic disease
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2003.015602