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Diagnosis of Five Spinocerebellar Ataxia Disorders by Multiplex Amplification and Capillary Electrophoresis

The autosomal-dominant spinocerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders with variable expression and phenotypic overlap. An accurate diagnosis relies on detection of a mutation in a specific causative gene, which is typically an abnormal number of CAG trinucleo...

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Main Authors: Dorschner, Michael O., Barden, Deborah, Stephens, Karen
格式: Artigo
語言:Inglês
出版: American Society for Investigative Pathology 2002
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1906987/
https://ncbi.nlm.nih.gov/pubmed/11986402
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