Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles-Reference-Cited by-同舟云学术

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Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles

Published:2002-03 Issue:3 Volume:10 Page:204-209
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Zühlke Christine,Dalski Andreas,Hellenbroich Yorck,Bubel Stefanie,Schwinger Eberhard,Bürk Katrin

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5200788.pdf

Reference30 articles.

1. Orr HT, Chung M, Banfi S et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 Nat Genet 1993 4: 221–226

2. Imbert G, Saudou F, Yvert G et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats Nat Genet 1996 14: 285–291

3. Pulst SM, Nechiporuk A, Nechiporuk T et al. Moderate expansion of a normally biallelic trinucleotide repeat in spino- cerebellar ataxia type 2 Nat Genet 1996 14: 269–276

4. Sanpei K, Takano H, Igarashi S et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT Nat Genet 1996 14: 277–284

5. Kawaguchi Y, Okamoto T, Taniwaki M et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 Nat Genet 1994 8: 221–228

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