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Alternative Splicing in the α-Galactosidase A Gene: Increased Exon Inclusion Results in the Fabry Cardiac Phenotype

✍ Scribed by Satoshi Ishii; Shoichiro Nakao; Reiko Minamikawa-Tachino; Robert J. Desnick; Jian-Qiang Fan


Book ID
117853845
Publisher
American Society of Human Genetics
Year
2002
Tongue
English
Weight
403 KB
Volume
70
Category
Article
ISSN
0002-9297

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Point mutations in the upstream region o
✍ Satoshi Ishii; Hitoshi Sakuraba; Yoshiyuki Suzuki 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 513 KB

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