| 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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| 6 | GSD6B, PHKA2
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| Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II.
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| Hendrickx J, et al.
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| Am J Hum Genet 64(6):1541-9. 1999
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| 7 | GSD6B, PHKA2
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| Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.
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| Burwinkel B, et al.
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| Hum Genet 102 : 423-429. 1998
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| 8 | PHKA2, GSD6B
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| Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years.
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| Hendrickx J, Bosshard NU, Willems P, Gitzelmann R.
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| Eur J Pediatr 157 : 919-923. 1998
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| 9 | PHKA2, GSD6B
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| Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1.
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| Hirono H, et al.
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| J Inherit Metab Dis 21(8):846-52. 1998
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| 10 | PYGM, GSD5B, GSD6A, GSD6B, PHKA2
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| Genetic deficiencies of the glycogen phosphorylase system.
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| Hendrickx J, Willems PJ.
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| Hum Genet 97(5):551-6. 1996
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| 11 | PHKA2, GSD6B
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| X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.
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| Hendrickx J, et al.
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| Hum Mol Genet 5 : 649-652. 1996
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| 12 | GSD6B,PHKA2
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| Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).
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| Burwinkel B, et al.
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| Hum Mol Genet 5 : 653-658. 1996
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| 13 | PHKA2, GSD6B
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| X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.
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| Van den Berg IET, et al.
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| Am J Hum Genet 56 : 381-387. 1995
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| 14 | DXS69E, GEMIN8, GLRA2, PIGA, GRPR, S100G, PHKA2
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| A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes.
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| Alitalo T, et al.
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| Genomics 25 : 691-700. 1995
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| 15 | PHKA2, GSD6B
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| Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.
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| Hirono H, et al.
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| Biochem Mol Biol Int 36 : 505-511. 1995
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| 16 | GSD6B, PHKA2
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| Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.
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| Hendrickx J, et al.
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| Hum Mol Genet 4 : 77-83. 1995
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| 17 | PHKA2, GSD6B
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| Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).
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| Hendrickx J, et al.
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| Genomics 21 : 620-625. 1994
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| 18 | GSD6B, PHKA2
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| X-linked liver glycogenosis : localization and isolation of a candidate gene.
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| Hendrickx J, et al.
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| Hum Mol Genet 2 : 583-589. 1993
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| 19 | PHKA2
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| Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp.
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| Wauters JG, et al.
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| Cytogenet Cell Genet 60 : 194-196. 1992
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| 20 | PHKA2
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| cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.
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| Davidson JJ, et al.
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| Proc Natl Acad Sci U S A 89 : 2096-2100. 1992
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| 21 | PHKA2
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| Mapping of the gene for X-linked liver glycogenesis in Xp22.
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| Hendrickx J, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2066. 1991
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| 22 | PHKA2
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| Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.
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| Willems PJ, et al.
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| Genomics 9 : 565-569. 1991
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