𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Codon 101 of PRKCG, a preferential mutation site in SCA14

✍ Scribed by Dagmar Nolte; Stephan Klebe; Ralf Baron; Günther Deuschl; Ulrich Müller


Book ID
102508666
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
112 KB
Volume
22
Category
Article
ISSN
0885-3185

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Novel PRKCG/SCA14 mutation in a Dutch sp
✍ Monique H.M. Vlak; Richard J. Sinke; Gwenda M. Rabelink; Berry P.H. Kremer; Bart 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 128 KB

## Abstract We report on a family with an autosomal dominant cerebellar ataxia in which we identified a novel mutation in exon 5 of the __PRKCG__/SCA14 gene that results in a Val138Glu substitution in the encoded protein PKCγ. While most affected subjects displayed a late‐onset uncomplicated form o

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