Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease
✍ Scribed by Saito, Seiji; Ohno, Kazuki; Sakuraba, Hitoshi
- Book ID
- 118027278
- Publisher
- Nature Publishing Group
- Year
- 2011
- Tongue
- English
- Weight
- 206 KB
- Volume
- 56
- Category
- Article
- ISSN
- 1435-232X
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Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the a-galactosidase A gene at Xq22.1. Studies of the mutations in unrelated Fabry families have identified a variety of lesions indicating the molecular genetic heterogeneity underlying the disease. Fo
Fabry disease, an X-linked recessive disorder of glycosphingolipid catabolism, results from lesions in the alpha-galactosidase A gene leading to deficient or absent activity of the lysosomal hydrolase. To facilitate the detection of rearrangements in this 14-kb gene, a method was developed for the P