A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
✍ Scribed by Alexander Zimprich; Anna Benet-Pagès; Walter Struhal; Elisabeth Graf; Sebastian H. Eck; Marc N. Offman; Dietrich Haubenberger; Sabine Spielberger; Eva C. Schulte; Peter Lichtner; Shaila C. Rossle; Norman Klopp; Elisabeth Wolf; Klaus Seppi; Walter Pirker; Stefan Presslauer; Brit Mollenhauer; Regina Katzenschlager; Thomas Foki; Christoph Hotzy; Eva Reinthaler; Ashot Harutyunyan; Robert Kralovics; Annette Peters; Fritz Zimprich; Thomas Brücke; Werner Poewe; Eduard Auff; Claudia Trenkwalder; Burkhard Rost; Gerhard Ransmayr; Juliane Winkelmann; Thomas Meitinger; Tim M. Strom
- Book ID
- 113423071
- Publisher
- American Society of Human Genetics
- Year
- 2011
- Tongue
- English
- Weight
- 308 KB
- Volume
- 89
- Category
- Article
- ISSN
- 0002-9297
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The mutation causing juvenile Tay-Sachs disease (TSD) in two sibs of Lebanese-Maronite origin is described. An mRNA-containing extract of cultured fibroblasts obtained from one of the probands was used as a template to amplify the coding sequence of the hexoaminidase A (Hex A) a-subunit. Sequencing