Phenotypic characterization of individuals with 30-40 CAG repeat in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats

• Published in: American journal of human genetics Vol. 59; no. 1; pp. 16 - 22
• Main Authors: RUBINSZTEIN, D. C, LEGGO, J, CURTIS, D, DAVIDSON, M. J, DIFFER, A.-M, DODE, C, DODGE, A, FRONTALI, M, RANEN, N. G, STINE, O. C, SHERR, J. C, ABBOTT, M. H, COLES, R, FRANZ, M. L, GRAHAM, C. A, HARPER, P. S, HEDREEN, J. C, JACKSON, A, KAPLAN, J.-C, LOSEKOOT, M, MACMILLAN, J. C, MORRISON, P, TROTTIER, Y, ALMQVIST, E, NOVELLETTO, A, SIMPSON, S. A, THEILMANN, J, WHITTAKER, J. L, FOLSTEIN, S. E, ROSS, C. A, HAYDEN, M. R, BIANCALANA, V, CASSIMAN, J.-J, CHOTAI, K, CONNARTY, M, CRAUFURD, D, CURTIS, A
• Format: Journal Article
• Language: English
• Published: Chicago, IL University of Chicago Press 1996
• Subjects: Biological and medical sciences; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Medical sciences; Neurology; Human; Nervous system diseases; Phenotype; Repeated sequence; Gene penetrance; Central nervous system disease; Huntington disease; Degenerative disease; Cerebral disorder; Extrapyramidal syndrome; Genetic disease
• ISSN: 0002-9297; 1537-6605