Sequencing and characterization of the porcine α-galactosidase A gene: towards the generation of a porcine model for Fabry disease
✍ Scribed by Makoto Yoshimitsu; Koji Higuchi; Xin Fan; Sonshin Takao; Jeffrey A. Medin; Chuwa Tei; Toshihiro Takenaka
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 338 KB
- Volume
- 38
- Category
- Article
- ISSN
- 0301-4851
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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 is an X-linked recessive lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal; EC 3.2.1.22). In the past, it has been difficult to give an unequivocal diagnosis of carrier status in Fabry disease because of the overlap between normal and heterozygote enzyme lev
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