1996年4月
Acid alpha-glucosidase deficiency: Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype
Human Genetics
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- 巻
- 97
- 号
- 4
- 開始ページ
- 496
- 終了ページ
- 499
- 記述言語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1007/BF02267074
We report a missense mutation in an adult Japanese patient with acid alpha-glucosidase (GAA) deficiency. A TC to GT transition at nucleotides 1585-1586, was identified. This transition resulted in an amino acid substitution of Ser-529 to Val (S529V) in exon 11. We also have demonstrated that the S529V mutation abolishes the catalytic activity of the enzyme. Our data suggest that this mutation is the cause of the clinical manifestation known as adult-onset GAA deficiency. The missense mutation described here is a new mutation, and the first identified in Japanese patients with GAA deficiency.
- リンク情報
- ID情報
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- DOI : 10.1007/BF02267074
- ISSN : 0340-6717
- PubMed ID : 8834250
- SCOPUS ID : 0029998764