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Journal Abstract Search

165 related items for PubMed ID: 17051315

  • 1. New splicing mutations in propionic acidemia.
    Desviat LR, Clavero S, Perez-Cerdá C, Navarrete R, Ugarte M, Perez B.
    J Hum Genet; 2006; 51(11):992-997. PubMed ID: 17051315
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  • 2. Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.
    Richard E, Desviat LR, Pérez B, Pérez-Cerdá C, Ugarte M.
    Hum Genet; 1997 Nov; 101(1):93-6. PubMed ID: 9385377
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  • 4. Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
    Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, Desviat LR, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel RA.
    Hum Mutat; 1999 Nov; 14(4):275-82. PubMed ID: 10502773
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  • 9. Structure of the PCCA gene and distribution of mutations causing propionic acidemia.
    Campeau E, Desviat LR, Leclerc D, Wu X, Pérez B, Ugarte M, Gravel RA.
    Mol Genet Metab; 2001 Nov; 74(1-2):238-47. PubMed ID: 11592820
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  • 10. Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
    Pérez-Cerdá C, Clavero S, Pérez B, Rodríguez-Pombo P, Desviat LR, Ugarte M.
    Biochim Biophys Acta; 2003 May 20; 1638(1):43-9. PubMed ID: 12757933
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  • 11. High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.
    Ravn K, Chloupkova M, Christensen E, Brandt NJ, Simonsen H, Kraus JP, Nielsen IM, Skovby F, Schwartz M.
    Am J Hum Genet; 2000 Jul 20; 67(1):203-6. PubMed ID: 10820128
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  • 12. 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 20; 81(4):335-42. PubMed ID: 15059621
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  • 17. Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.
    Muro S, Rodríguez-Pombo P, Pérez B, Pérez-Cerdá C, Desviat LR, Sperl W, Skladal D, Sass JO, Ugarte M.
    Hum Mutat; 1999 Apr 20; 14(1):89-90. PubMed ID: 10447268
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  • 18. Mutations participating in interallelic complementation in propionic acidemia.
    Gravel RA, Akerman BR, Lamhonwah AM, Loyer M, Léon-del-Rio A, Italiano I.
    Am J Hum Genet; 1994 Jul 20; 55(1):51-8. PubMed ID: 8023851
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  • 20. cDNA cloning, mapping and expression of the mouse propionyl CoA carboxylase beta (pccb), the gene for human type II propionic acidaemia.
    Schrick JJ, Lingrel JB.
    Gene; 2001 Feb 07; 264(1):147-52. PubMed ID: 11245989
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