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Journal Abstract Search

150 related items for PubMed ID: 2741949

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  • 2. 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; 75(3):276-9. PubMed ID: 11914040
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  • 5. Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit.
    Lamhonwah AM, Leclerc D, Loyer M, Clarizio R, Gravel RA.
    Genomics; 1994 Feb; 19(3):500-5. PubMed ID: 8188292
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  • 6. 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; 35(5):889-99. PubMed ID: 6614005
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  • 9. 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; 41(6):1124-31. PubMed ID: 3687944
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  • 10. 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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  • 12. 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 Jul; 14(4):275-82. PubMed ID: 10502773
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  • 14. 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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  • 16. 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; 87(4):1372-6. PubMed ID: 2154743
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  • 17. 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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  • 19. 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
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