Citations for
1PHKB, GSD9B, PHKG2, GSD9C, PHKA2, GSD9A
Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M.
Mol Genet Metab 92(1-2):88-99. Epub 2007 Aug 3. 2007
2GSD5B, PHKA1, PHKG1, PHKB
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
Burwinkel, B.; Hu, B.; Schroers, A.; Clemens, P. R.; Moses, S. W.; Shin, Y. S.; Pongratz, D.; Vorgerd, M.; Kilimann, M. W.
Eur. J. Hum. Gen. 11(7):516-526. 2003
3PHKB, PHKA1
Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase.
Pallen MJ.
Protein Sci 12(8):1804-7. 2003
4GSD8B, PHKB
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).
Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS, Strachan JA, Kilimann MW.
Hum Mol Genet 6(7):1109-15. 1997
5GSD8B, PHKB
Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).
van den Berg IE, van Beurden EA, de Klerk JB, van Diggelen OP, Malingre HE, Boer MM, Berger R.
Am J Hum Genet 61(3):539-46. 1997
6GSD8B, PHKB
Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).
Burwinkel B, Moses SW, Kilimann MW.
Hum Genet 101(2):170-4. 1997
7GSD8B, PHKB
Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance.
Svik O, et al.
Eur J Pediatr 139 : 210. 1982
8GSD8B, PHKB
Glycogenosis due to liver and muscle phosphorylase kinase deficiency.
Bashan N, et al.
Pediatr Res 15 : 299-303. 1981