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Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia

A GAG deletion in the DYT1 gene is a major cause of early-onset dystonia, but clinical disease expression occurs in only 30% of mutation carriers. To gain insight into genetic factors that may influence penetrance, we evaluated three DYT1 single-nucleotide polymorphisms, including D216H, a coding-se...

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Auteurs principaux: Risch, Neil J. , Bressman, Susan B. , Senthil, Geetha , Ozelius, Laurie J. 
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2007
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867106/
https://ncbi.nlm.nih.gov/pubmed/17503336
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