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Journal Abstract Search

129 related items for PubMed ID: 9137883

  • 1. Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers.
    Okubo M, Aoyama Y, Kishimoto M, Shishiba Y, Murase T.
    Clin Genet; 1997 Mar; 51(3):179-83. PubMed ID: 9137883
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  • 3. Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a.
    Lam CW, But WM, Shek CC, Tong SF, Chan YS, Choy KW, Tse WY, Pang CP, Hjelm NM.
    Clin Genet; 1998 Mar; 53(3):184-90. PubMed ID: 9630072
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  • 5. Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.
    Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K.
    Am J Med Genet; 2000 Mar 13; 91(2):107-12. PubMed ID: 10748407
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  • 6. Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.
    Lee WJ, Lee HM, Chi CS, Shu SG, Lin LY, Lin WH.
    Clin Genet; 1996 Oct 13; 50(4):206-11. PubMed ID: 9001800
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  • 7. Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.
    Takahashi K, Akanuma J, Matsubara Y, Fujii K, Kure S, Suzuki Y, Wataya K, Sakamoto O, Aoki Y, Ogasawara M, Ohura T, Miyabayashi S, Narisawa K.
    Am J Med Genet; 2000 May 15; 92(2):90-4. PubMed ID: 10797430
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  • 12. Case report: Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family.
    Nakamura T, Ozawa T, Kawasaki T, Yasumi K, Wang DY, Kitagawa M, Takehira Y, Tamakoshi K, Yamada M, Kida H, Sugie H, Nakamura H, Sugimura H.
    J Gastroenterol Hepatol; 1999 Jun 15; 14(6):553-8. PubMed ID: 10385064
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  • 14. A case of glycogen storage disease type Ia with multiple hepatic adenomas and G727T mutation in the glucose-6-phosphatase gene, and a comparison with other mutations previously reported.
    Karasawa Y, Kobayashi M, Nakano Y, Aoki Y, Kawa S, Kiyosawa K, Seki H, Kawasaki S, Furihata K, Itoh N.
    Am J Gastroenterol; 1998 Sep 15; 93(9):1550-3. PubMed ID: 9732943
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  • 16. Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia.
    Chiang SC, Lee YM, Chang MH, Wang TR, Ko TM, Hwu WL.
    J Hum Genet; 2000 Sep 15; 45(4):197-9. PubMed ID: 10944847
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  • 17. Glycogen storage disease type 1a in three siblings with the G270V mutation.
    Parvari R, Isam J, Moses SW.
    J Inherit Metab Dis; 1999 Apr 15; 22(2):149-54. PubMed ID: 10234610
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  • 20. Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.
    Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A, Van Hove JL, Ou HC, Yeh NJ, Pan LY.
    Am J Hum Genet; 1995 Oct 15; 57(4):766-71. PubMed ID: 7573034
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