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Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.
Hum Mutat. 2000 Nov;16(5):444. doi: 10.1002/1098-1004(200011)16:5<444::AID-HUMU10>3.0.CO;2-F.
Hum Mutat. 2000.
PMID: 11058903
The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.
Shieh JJ, Terzioglu M, Hiraiwa H, Marsh J, Pan CJ, Chen LY, Chou JY.
Shieh JJ, et al.
J Biol Chem. 2002 Feb 15;277(7):5047-53. doi: 10.1074/jbc.M110486200. Epub 2001 Dec 5.
J Biol Chem. 2002.
PMID: 11739393
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