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A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1.
DNA Diagnostic Labortory, Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201, USA.
PMID: 8634720 [PubMed - indexed for MEDLINE]
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Cited by 6 PubMed Central articles
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Role of histidine interruption in mitigating the pathological effects of long polyglutamine stretches in SCA1: A molecular approach.
Sen S, Dash D, Pasha S, Brahmachari SK.
Protein Sci. 2003 May; 12(5):953-62.
[Protein Sci. 2003]
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An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus.
Vincent JB, Neves-Pereira ML, Paterson AD, Yamamoto E, Parikh SV, Macciardi F, Gurling HM, Potkin SG, Pato CN, Macedo A, et al.
Am J Hum Genet. 2000 Mar; 66(3):819-29.
[Am J Hum Genet. 2000]
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ReviewCAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci.
Frontali M, Novelletto A, Annesi G, Jodice C.
Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29; 354(1386):1089-94.
[Philos Trans R Soc Lond B Biol Sci. 1999]
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