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Journal Abstract Search

258 related items for PubMed ID: 12559849

  • 21. A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.
    Ohura T, Narisawa K, Tada K, Iinuma K.
    Hum Genet; 1995 Jun; 95(6):707-8. PubMed ID: 7789958
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  • 22. Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
    Rivera-Barahona A, Navarrete R, García-Rodríguez R, Richard E, Ugarte M, Pérez-Cerda C, Pérez B, Gámez A, Desviat LR.
    Mol Genet Metab; 2018 Nov; 125(3):266-275. PubMed ID: 30274917
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  • 23. Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.
    Muro S, Pérez B, Desviat LR, Rodríguez-Pombo P, Pérez-Cerdá C, Clavero S, Ugarte M.
    Mol Genet Metab; 2001 Dec; 74(4):476-83. PubMed ID: 11749052
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  • 26. Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.
    Gupta D, Bijarnia-Mahay S, Kohli S, Saxena R, Puri RD, Shigematsu Y, Yamaguchi S, Sakamoto O, Gupta N, Kabra M, Thakur S, Deb R, Verma IC.
    Genet Test Mol Biomarkers; 2016 Jul; 20(7):373-82. PubMed ID: 27227689
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  • 32. [Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].
    Chen Z, Wen P, Wang G, Hu Y, Liu X, Chen L, Chen S, Wan L, Cui D, Shang Y, Li C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb; 32(1):26-30. PubMed ID: 25636094
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  • 35. Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
    Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Yamaguchi S, Takahashi Y, Nishikubo T, Kawaguchi C, Yoshioka A, Kimura T, Hayasaka K, Kohno Y, Iinuma K, Ohura T.
    Mol Genet Metab; 2004 Apr; 81(4):335-42. PubMed ID: 15059621
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  • 37. Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.
    Ohura T, Miyabayashi S, Narisawa K, Tada K.
    Hum Genet; 1991 May; 87(1):41-4. PubMed ID: 2037281
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  • 39. Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene.
    Miyazaki T, Ohura T, Kobayashi M, Shigematsu Y, Yamaguchi S, Suzuki Y, Hata I, Aoki Y, Yang X, Minjares C, Haruta I, Uto H, Ito Y, Müller U.
    J Biol Chem; 2001 Sep 21; 276(38):35995-9. PubMed ID: 11461925
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