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Study of the genetic variability in a Parkinson's Disease gene: EIF4G1

Chartier-Harlin and colleagues [2] recently reported mutations in the eukaryotic translation initiation factor 4-gamma (EIF4G1) gene in families with parkinsonism. Large-scale screening found two mutations (p.R1205H and p.A502V) only in affected individuals, although their relative frequency was ver...

詳細記述

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書誌詳細
主要な著者: Tucci, Arianna, Charlesworth, Gavin, Sheerin, Una-Marie, Plagnol, Vincent, Wood, Nicholas W., Hardy, John
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier Scientific Publishers Ireland 2012
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3769807/
https://ncbi.nlm.nih.gov/pubmed/22561553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neulet.2012.04.033
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