| 1 | GSD9A, PHKA2
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| Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China.
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| Lau CK, Hui J, Fong FN, To KF, Fok TF, Tang NL, Tsui SK.
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| Mol Genet Metab 102(2):222-5. Epub 2010 Nov 23.
2011
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| 2 | GSD9A, PHKA2
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| A novel PHKA2 gross deletion mutation in a Korean patient with X-linked liver glycogenosis type I.
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| Park KJ, Park HD, Lee SY, Ki CS, Choe YH.
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| Ann Clin Lab Sci 41(2):197-200.
2011
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| 3 | GSD9A, PHKA2
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| 3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.
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| Carrière C, Jonic S, Mornon JP, Callebaut I.
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| Biochim Biophys Acta 1782(11):664-70. Epub 2008 Oct 7.
2008
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| 4 | PHKB, GSD9B, PHKG2, GSD9C, PHKA2, GSD9A
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| Glycogen storage disease type IX: High variability in clinical phenotype.
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| Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M.
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| Mol Genet Metab 92(1-2):88-99. Epub 2007 Aug 3. 2007
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| 5 | GSD9A, PHKA2
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| Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency.
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| Ban K, Sugiyama K, Goto K, Mizutani F, Togari H.
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| Tohoku J Exp Med 200(1):47-53.
2003
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