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Journal Abstract Search

229 related items for PubMed ID: 8023851

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Two distinct mutations at the same site in the PCCB gene in propionic acidemia.
    Lamhonwah AM, Troxel CE, Schuster S, Gravel RA.
    Genomics; 1990 Oct; 8(2):249-54. PubMed ID: 2249848
    [Abstract] [Full Text] [Related]

  • 4. Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.
    Rodríguez-Pombo P, Pérez-Cerdá C, Pérez B, Desviat LR, Sánchez-Pulido L, Ugarte M.
    Biochim Biophys Acta; 2005 Jun 10; 1740(3):489-98. PubMed ID: 15949719
    [Abstract] [Full Text] [Related]

  • 5. 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 Jun 10; 14(4):275-82. PubMed ID: 10502773
    [Abstract] [Full Text] [Related]

  • 6. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
    Pérez B, Desviat LR, Rodríguez-Pombo P, Clavero S, Navarrete R, Perez-Cerdá C, Ugarte M.
    Mol Genet Metab; 2003 Jan 10; 78(1):59-67. PubMed ID: 12559849
    [Abstract] [Full Text] [Related]

  • 7. 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 10; 67(1):203-6. PubMed ID: 10820128
    [Abstract] [Full Text] [Related]

  • 8. Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.
    Campeau E, Dupuis L, Leclerc D, Gravel RA.
    Hum Mol Genet; 1999 Jan 10; 8(1):107-13. PubMed ID: 9887338
    [Abstract] [Full Text] [Related]

  • 9. Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits.
    Rodriguez-Pombo P, Pérez-Cerdá C, Desviat LR, Pérez B, Ugarte M, Rodríguez-Pombo P.
    Mol Genet Metab; 2002 Mar 10; 75(3):276-9. PubMed ID: 11914040
    [Abstract] [Full Text] [Related]

  • 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 10; 67(1):11-22. PubMed ID: 10329019
    [Abstract] [Full Text] [Related]

  • 11. Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
    Rodríguez-Pombo P, Hoenicka J, Muro S, Pérez B, Pérez-Cerdá C, Richard E, Desviat LR, Ugarte M.
    Am J Hum Genet; 1998 Aug 10; 63(2):360-9. PubMed ID: 9683601
    [Abstract] [Full Text] [Related]

  • 12. 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 10; 101(1):93-6. PubMed ID: 9385377
    [Abstract] [Full Text] [Related]

  • 13. Assignment of the alpha and beta chains of human propionyl-CoA carboxylase to genetic complementation groups.
    Lam Hon Wah AM, Lam KF, Tsui F, Robinson B, Saunders ME, Gravel RA.
    Am J Hum Genet; 1983 Sep 10; 35(5):889-99. PubMed ID: 6614005
    [Abstract] [Full Text] [Related]

  • 14. Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.
    Lamhonwah AM, Gravel RA.
    Am J Hum Genet; 1987 Dec 10; 41(6):1124-31. PubMed ID: 3687944
    [Abstract] [Full Text] [Related]

  • 15. 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 Dec 10; 74(1-2):238-47. PubMed ID: 11592820
    [Abstract] [Full Text] [Related]

  • 16. [Gene mutation analysis in patients with propionic acidemia].
    Hu YH, Han LS, Ye J, Qiu WJ, Zhang YF, Yang YL, Liu L, Ma HW, Gao XL, Gu XF.
    Zhonghua Er Ke Za Zhi; 2008 Jun 10; 46(6):416-20. PubMed ID: 19099776
    [Abstract] [Full Text] [Related]

  • 17. Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.
    Tahara T, Kraus JP, Ohura T, Rosenberg LE, Fenton WA.
    J Inherit Metab Dis; 1993 Jun 10; 16(2):353-60. PubMed ID: 8411997
    [Abstract] [Full Text] [Related]

  • 18. The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.
    Ohura T, Ogasawara M, Ikeda H, Narisawa K, Tada K.
    Hum Genet; 1993 Oct 10; 92(4):397-402. PubMed ID: 8225321
    [Abstract] [Full Text] [Related]

  • 19. An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.
    Tahara T, Kraus JP, Rosenberg LE.
    Proc Natl Acad Sci U S A; 1990 Feb 10; 87(4):1372-6. PubMed ID: 2154743
    [Abstract] [Full Text] [Related]

  • 20. Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.
    Crane AM, Ledley FD.
    Am J Hum Genet; 1994 Jul 10; 55(1):42-50. PubMed ID: 7912889
    [Abstract] [Full Text] [Related]

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