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
✦ LIBER ✦
Mutations in exon 7 of the α-galactosidase a gene
✍ Scribed by K. Rosenberg; S.H. Hafsteinsdottir; A. Skarbövik; G. Houge; E. Christensen; L. Hasholt
- Book ID
- 117321768
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 91 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0149-2918
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