| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | 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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