The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway

Paroxysmal non-kinesigenic dyskinesia (PNKD) is characterized by spontaneous hyperkinetic attacks that are precipitated by alcohol, coffee, stress and fatigue. We report mutations in the myofibrillogenesis regulator 1 (MR-1) gene causing PNKD in 50 individuals from eight families. The mutations caus...

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Detaylı Bibliyografya
Asıl Yazarlar: Hsien-Yang Lee, Ying Xu, Yong Huang, Andrew H. Ahn, Georg Auburger, Massimo Pandolfo, Hubert Kwieciński, David A. Grimes, Anthony E. Lang, Jørgen E. Nielsen, Yuri Averyanov, Serenella Servidei, Andrzej Friedman, Patrick Van Bogaert, Marc Abramowicz, Michiko Kimura Bruno, Beatrice F. Sorensen, Ling Tang, Ying‐Hui Fu, Louis J. Ptáček
Materyal Türü: Artigo
Dil:İngilizce
Baskı/Yayın Bilgisi: 2004
Online Erişim:https://doi.org/10.1093/hmg/ddh330
https://academic.oup.com/hmg/article-pdf/13/24/3161/17241083/ddh330.pdf
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https://doi.org/10.1093/hmg/ddh330
https://academic.oup.com/hmg/article-pdf/13/24/3161/17241083/ddh330.pdf

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