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1998 | 1 |
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Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.
Am J Hum Genet. 1998 Apr;62(4):785-91. doi: 10.1086/301790.
Am J Hum Genet. 1998.
PMID: 9529348
Free PMC article.
Human liver glycogen phosphorylase inhibitors bind at a new allosteric site.
Rath VL, Ammirati M, Danley DE, Ekstrom JL, Gibbs EM, Hynes TR, Mathiowetz AM, McPherson RK, Olson TV, Treadway JL, Hoover DJ.
Rath VL, et al.
Chem Biol. 2000 Sep;7(9):677-82. doi: 10.1016/s1074-5521(00)00004-1.
Chem Biol. 2000.
PMID: 10980448
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High frequency of missense mutations in glycogen storage disease type VI.
Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, Tanner MS, Pronicka E, Sharrard MJ.
Beauchamp NJ, et al.
J Inherit Metab Dis. 2007 Oct;30(5):722-34. doi: 10.1007/s10545-007-0499-9. Epub 2007 Aug 21.
J Inherit Metab Dis. 2007.
PMID: 17705025
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