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Journal Abstract Search

208 related items for PubMed ID: 11749052

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  • 2. 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; 14(4):275-82. PubMed ID: 10502773
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  • 3. Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
    Chloupkova M, Maclean KN, Alkhateeb A, Kraus JP.
    Hum Mutat; 2002 Jun; 19(6):629-40. PubMed ID: 12007220
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  • 8. Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.
    Muro S, Perez-Cerdá C, Roddríguez-Pombo P, Pérez B, Briones P, Ribes A, Ugarte M.
    J Med Genet; 1999 May; 36(5):412-4. PubMed ID: 10353789
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  • 10. Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.
    Campeau E, Dupuis L, León-Del-Rio A, Gravel R.
    Mol Genet Metab; 1999 May; 67(1):11-22. PubMed ID: 10329019
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  • 12. Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
    Loyer M, Leclerc D, Gravel RA.
    Hum Mol Genet; 1995 Jun; 4(6):1035-9. PubMed ID: 7655456
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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; 55(1):51-8. PubMed ID: 8023851
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  • 19. 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; 67(1):203-6. PubMed ID: 10820128
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