Abstract:
: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.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Tsunoda H,Ohshima T,Tohyama J,Sasaki M,Sakuragawa N,Martiniuk Fdoi
10.1007/BF02267074subject
Has Abstractpub_date
1996-04-01 00:00:00pages
496-9issue
4eissn
0340-6717issn
1432-1203journal_volume
97pub_type
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