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Journal Abstract Search

134 related items for PubMed ID: 9245685

  • 1. 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
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  • 3. 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
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  • 6. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.
    Lee PL, Gelbart T, West C, Halloran C, Beutler E.
    Blood Cells Mol Dis; 1998 Jun 28; 24(2):199-215. PubMed ID: 9642100
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  • 7. Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.
    Garbarz M, Tse WT, Gallagher PG, Picat C, Lecomte MC, Galibert F, Dhermy D, Forget BG.
    J Clin Invest; 1991 Jul 28; 88(1):76-81. PubMed ID: 2056132
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  • 10. Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
    Waheed N, Saeed A, Ijaz S, Fayyaz Z, Anjum MN, Zahoor Y, Cheema HA.
    J Pediatr Endocrinol Metab; 2020 Sep 25; 33(9):1117-1123. PubMed ID: 32697758
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  • 15. Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
    Ogino W, Takeshima Y, Nishiyama A, Okizuka Y, Yagi M, Tsuneishi S, Saiki K, Kugo M, Matsuo M.
    Kobe J Med Sci; 2007 Sep 25; 53(5):229-40. PubMed ID: 18204299
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  • 16. 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, Malingré HE, Boer MM, Berger R.
    Am J Hum Genet; 1997 Sep 25; 61(3):539-46. PubMed ID: 9326319
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  • 19. 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 PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW.
    Eur J Hum Genet; 2003 Jul 25; 11(7):516-26. PubMed ID: 12825073
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  • 20. Defective RNA splicing resulting from a mutation in the cyclic guanosine monophosphate-phosphodiesterase beta-subunit gene.
    Piriev NI, Shih JM, Farber DB.
    Invest Ophthalmol Vis Sci; 1998 Mar 25; 39(3):463-70. PubMed ID: 9501854
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