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Article

Identification of a 5' splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa.

Journal of inherited metabolic disease - 1 Jul 2000

Uotani S, Yamasaki H, Takino H, Kawasaki E, Matsuo H, Yamasaki S, Jinno Y, Niikawa N, Ito M, Sugie H, Yamaguchi Y, Eguchi K

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PMID: 10947213
DOI: 10.1023/a:1005632818722

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Identification of a 5' splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa.PMID 10947213Read ↗

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