Identification of a Novel Mutation and Prevalence Study for Fabry Disease in Japanese Dialysis Patients
β Scribed by Nishino, Tomoya; Obata, Yoko; Furusu, Akira; Hirose, Misaki; Shinzato, Ken; Hattori, Kiyoko; Nakamura, Kimitoshi; Matsumoto, Tadashi; Endo, Fumio; Kohno, Shigeru
- Book ID
- 120322220
- Publisher
- Informa plc
- Year
- 2012
- Tongue
- English
- Weight
- 336 KB
- Volume
- 34
- Category
- Article
- ISSN
- 0886-022X
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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
Fabry disease, an X -linked inborn error of glycosphingolipid catabolism, results from mutations in the Ξ±-galactosidase A gene (GLA). Here we report molecular studies in 22 unrelated Spanish patients with Fabry disease ( 20 males and two females). Fifteen novel mutations were identified. In addition