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A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14

✍ Scribed by Isabel Alonso; Cristina Costa; André Gomes; Anabela Ferro; Ana I. Seixas; Sérgio Silva; Vitor Tedim Cruz; Paula Coutinho; Jorge Sequeiros; Isabel Silveira


Book ID
106251923
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
664 KB
Volume
50
Category
Article
ISSN
1435-232X

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Spinocerebellar ataxia 14: Novel mutatio
✍ Dagmar Nolte; Melanie Landendinger; Eberhard Schmitt; Ulrich Müller 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 202 KB

## Abstract We describe a novel mutation in the gene coding for protein kinase C gamma (__PRKCG__) in patients of a German family affected with slowly progressive gait ataxia, dysarthria, and nystagmus. The G/T missense mutation occurred in exon 2 of __PRKCG__ and results in a substitution of glyci