1996•Human GeneticsRequires access

Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype

Hiroyuki Tsunoda, Toshio Ohshima, Jun Tohyama, Masayuki Sasaki, Norio Sakuragawa, Frank T. Martiniuk

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Key concepts: Missense mutation, Mutation, Biology, Exon, Genetics, Transition (genetics), Phenotype, Amino acid substitution

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Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype — Research Paper | ScholarLens