Fabry disease is an X-linked inborn error of sphingolipid catabolism resulting from deficient enzyme activity of a-galactosidase A. The molecular defects of human a-galactosidase A gene causing Fabry disease have been characterized, including gene rearrangement and point mutations, which show the ge
A study of six point mutation analysis ofLRRK2gene in Chinese mainland patients with Parkinson’s disease
✍ Scribed by Z. X. Hu; D. T. Peng; M. Cai; J. L. Pu; X. G. Lei; X. Z. Yin; Z. Y. Ou-Yang; W. Luo; B. R. Zhang
- Publisher
- Springer Milan
- Year
- 2011
- Tongue
- English
- Weight
- 129 KB
- Volume
- 32
- Category
- Article
- ISSN
- 1590-1874
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