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129 related items for PubMed ID: 2602386
21. Structural sequences are conserved in the genes coding for the alpha, alpha' and beta-subunits of the soybean 7S seed storage protein. Schuler MA, Ladin BF, Pollaco JC, Freyer G, Beachy RN. Nucleic Acids Res; 1982 Dec 20; 10(24):8245-61. PubMed ID: 6897678 [Abstract] [Full Text] [Related]
22. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Maichele AJ, Burwinkel B, Maire I, Søvik O, Kilimann MW. Nat Genet; 1996 Nov 20; 14(3):337-40. PubMed ID: 8896567 [Abstract] [Full Text] [Related]
23. X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. van den Berg IE, van Beurden EA, Malingré HE, van Amstel HK, Poll-The BT, Smeitink JA, Lamers WH, Berger R. Am J Hum Genet; 1995 Feb 20; 56(2):381-7. PubMed ID: 7847371 [Abstract] [Full Text] [Related]
24. Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis. Hanks SK. Mol Endocrinol; 1989 Jan 20; 3(1):110-6. PubMed ID: 2915644 [Abstract] [Full Text] [Related]
25. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Wehner M, Clemens PR, Engel AG, Kilimann MW. Hum Mol Genet; 1994 Nov 20; 3(11):1983-7. PubMed ID: 7874115 [Abstract] [Full Text] [Related]
26. Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2). van Beurden EA, de Graaf M, Wendel U, Gitzelmann R, Berger R, van den Berg IE. Biochem Biophys Res Commun; 1997 Jul 30; 236(3):544-8. PubMed ID: 9245685 [Abstract] [Full Text] [Related]
28. Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1). Wehner M, Kilimann MW. Hum Genet; 1995 Nov 30; 96(5):616-8. PubMed ID: 8530014 [Abstract] [Full Text] [Related]
29. Closely related families of genes code for the alpha and alpha' subunits of the soybean 7S storage protein complex. Schuler MA, Schmitt ES, Beachy RN. Nucleic Acids Res; 1982 Dec 20; 10(24):8225-44. PubMed ID: 6298713 [Abstract] [Full Text] [Related]
32. Localization of the muscle, liver, and brain glycogen phosphorylase genes on linkage maps of mouse chromosomes 19, 12, and 2, respectively. Glaser T, Matthews KE, Hudson JW, Seth P, Housman DE, Crerar MM. Genomics; 1989 Oct 20; 5(3):510-21. PubMed ID: 2575583 [Abstract] [Full Text] [Related]
33. A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy. Bruno C, Manfredi G, Andreu AL, Shanske S, Krishna S, Ilse WK, DiMauro S. Biochem Biophys Res Commun; 1998 Aug 28; 249(3):648-51. PubMed ID: 9731190 [Abstract] [Full Text] [Related]
34. Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. Wuyts W, Reyniers E, Ceuterick C, Storm K, de Barsy T, Martin JJ. Am J Med Genet A; 2005 Feb 15; 133A(1):82-4. PubMed ID: 15637709 [Abstract] [Full Text] [Related]
35. Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13. Gossen M, Wüllrich A, Kilimann MW. Hum Genet; 1995 Apr 15; 95(4):469-70. PubMed ID: 7705849 [Abstract] [Full Text] [Related]
38. Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13. Francke U, Darras BT, Zander NF, Kilimann MW. Am J Hum Genet; 1989 Aug 15; 45(2):276-82. PubMed ID: 2757032 [Abstract] [Full Text] [Related]