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Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease).

Human mutation - 1 Apr 2000

Wu M C, Tsai F J, Le C C, Lin S P, Wu J Y

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PMID: 10738005
DOI: 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU32>3.0.CO;2-N

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