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
Missense mutation in exon 2 of α-galactosidase A in a patient with Fabry disease
✍ Scribed by Shin’nosuke Ishida; Kaoru Ichimura; Akio Yamakage; Shigeru Matsuzaki; Soji Yamazaki
- Publisher
- Springer-Verlag
- Year
- 1997
- Tongue
- English
- Weight
- 52 KB
- Volume
- 289
- Category
- Article
- ISSN
- 0340-3696
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Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new case. They both expressed marked
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