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Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia

✍ Scribed by Dong-Hui Chen; Zoran Brkanac; L.M.J. Christophe Verlinde; Xiao-Jian Tan; Laura Bylenok; David Nochlin; Mark Matsushita; Hillary Lipe; John Wolff; Magali Fernandez; P.J. Cimino; D. Thomas Bird; Wendy H. Raskind

Book ID: 117854171
Publisher: American Society of Human Genetics
Year: 2003
Tongue: English
Weight: 806 KB
Volume: 72
Category: Article
ISSN: 0002-9297
DOI: 10.1086/373883

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Missense mutations in the AFG3L2 proteol

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

✍ Claudia Cagnoli; Giovanni Stevanin; Alessandro Brussino; Marco Barberis; Cecilia 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 480 KB

Spinocerebellar ataxia type 28 is an autosomal dominant form of cerebellar ataxia (ADCA) caused by mutations in AFG3L2, a gene that encodes a subunit of the mitochondrial m-AAA protease. We screened 366 primarily Caucasian ADCA families, negative for the most common triplet expansions, for point mut