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Article

Frequent mutations in Japanese patients with acid maltase deficiency.

Neuromuscular disorders : NMD - 1 Dec 2000

Tsujino S, Huie M, Kanazawa N, Sugie H, Goto Y, Kawai M, Nonaka I, Hirschhorn R, Sakuragawa N

Abstract excerpt

We screened 22 Japanese patients with acid maltase deficiency (seven with the infantile type, eight with the juvenile type and seven with the adult type) for three previously described mutations, D645E, S529V and R672Q, and a novel mutation, R600C. Although D645E has been reported to be common in Chinese patients with the infantile type, only three of 44 alleles (two of 14 infantile type alleles) from Japanese...

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PMID: 11053688
DOI: 10.1016/s0960-8966(00)00142-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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