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Titolo:
HUNTINGTONS-DISEASE - (CAG) (N) REPEATS O N GENE IT-15 IN AUSTRIA
Autore:
MESZAROS K; WILLINGER U; HEIDEN AM; FUCHS K; BAUMHACKL U; BRUCKE T; FEUCHT M; FATHI N; LENZINGER E; MILLER E; RESINGER E; WOBERBINGOL C; STOMPE T; SIEGHART W; ASCHAUER HN;
Indirizzi:
UNIV VIENNA,PSYCHIAT KLIN,ALLGEMEINE PSYCHIAT ABT,WAHRINGER GURTEL 18-20 A-1090 VIENNA AUSTRIA UNIV VIENNA,PSYCHIAT KLIN,ALLGEMEINE PSYCHIAT ABT,WAHRINGER GURTEL 18-20 A-1090 VIENNA AUSTRIA UNIV VIENNA,PSYCHIAT KLIN,BIOCHEM PSYCHIAT ABT A-1010 VIENNA AUSTRIA AO KRANKENHAUS,NEUROL ABT ST POLTEN AUSTRIA UNIV VIENNA,NEUROL KLIN A-1010 VIENNA AUSTRIA UNIV VIENNA,NEUROPSYCHIAT KINDES & JUGENDALTERS KLIN A-1010 VIENNA AUSTRIA
Titolo Testata:
Wiener Klinische Wochenschrift
fascicolo: 21, volume: 106, anno: 1994,
pagine: 671 - 672
SICI:
0043-5325(1994)106:21<671:H-((RO>2.0.ZU;2-T
Fonte:
ISI
Lingua:
GER
Keywords:
HUNTINGTONS DISEASE; (CAG)N REPEATS; GENE IT-15;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
5
Recensione:
Indirizzi per estratti:
Citazione:
K. Meszaros et al., "HUNTINGTONS-DISEASE - (CAG) (N) REPEATS O N GENE IT-15 IN AUSTRIA", Wiener Klinische Wochenschrift, 106(21), 1994, pp. 671-672

Abstract

In March 1993 the gene IT 15 was identified on chromosome 4p and it was demonstrated that it contained an unstable (CAG)n trinucleotide repeat that is elongated in patients with Huntington's chorea (HC). Persons with more than 37 (CAG)n repeats tend to have a higher risk of developing the disease. Testing the (CAG)n repeats in Austrian HC patientswith PCR techniques shows correspondence between the clinical diagnosis of HC and genotypes [more than 42 (CAG)n repeats]. There was a weakcorrelation between the number of (CAG)n repeats and age of onset, however, this finding is without diagnostic value due to the scatter of the values.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 17/09/19 alle ore 22:39:26