An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred
✍ Scribed by François Gros-Louis; Inge A. Meijer; Collette K. Hand; Marie-Pierre Dubé; Daune L. MacGregor; Marie-Hélène Seni; Rebecca S. Devon; Michael R. Hayden; Frederick Andermann; Eva Andermann; Guy A. Rouleau
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 94 KB
- Volume
- 53
- Category
- Article
- ISSN
- 0364-5134
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## Abstract ## Objective An arginine‐to‐cysteine substitution at position 519 of the __COL2A1__ gene causes early generalized osteoarthritis with mild chondrodysplasia in humans. In this study, a human __COL2A1__ gene with the same mutation was introduced into a murine genome having 1 or no allele