Spinocerebellar Ataxia Type 8: Molecular Genetic Comparisonsand Haplotype Analysis of 37 Families with Ataxia

We reported elsewhere that an untranslated CTG expansion causes the dominantly inherited neurodegenerative disorder spinocerebellar ataxia type 8 (SCA8). SCA8 shows a complex inheritance pattern with extremes of incomplete penetrance, in which often only one or two affected individuals are found in...

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Main Authors: Ikeda, Yoshio, Dalton, Joline C., Moseley, Melinda L., Gardner, Kathy L., Bird, Thomas D., Ashizawa, Tetsuo, Seltzer, William K., Pandolfo, Massimo, Milunsky, Aubrey, Potter, Nicholas T., Shoji, Mikio, Vincent, John B., Day, John W., Ranum, Laura P. W.
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2004
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182005/
https://ncbi.nlm.nih.gov/pubmed/15152344
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