Mutation analysis of the ATP2A2 gene in Taiwanese patients with Darier's disease
β Scribed by S-C. Chao; M-H. Yang; J.y-Y. Lee
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 293 KB
- Volume
- 146
- Category
- Article
- ISSN
- 0007-0963
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract Mutations in the leucineβrich repeat kinase 2 (__LRRK2__) gene have been shown to cause autosomal dominant and sporadic Parkinson's disease (PD). We report here the frequency of a common heterozygous mutation, 2877510G>A, which produces a glycineβtoβserine amino acid substitution at cod
## Abstract ## Background: Deletions and duplications of single exons or exon groups account for a large proportion of the __PARK2__ gene mutations described in juvenile autosomal recessive Parkinson's disease (PD). ## Methods: We analyzed rearrangements in exons 1 to 12 of the __PARK2__ gene in
## Abstract Among 242 patients with apparently sporadic Parkinson's disease, a 70βyearβold man with a CAG repeat number of 37 in the __SCA2__ gene was identified. He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is