These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

233 related articles for article (PubMed ID: 9683601)

  • 1. 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; 63(2):360-9. PubMed ID: 9683601
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 78(1):59-67. PubMed ID: 12559849
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli.
    Chloupková M; Ravn K; Schwartz M; Kraus JP
    Mol Genet Metab; 2000 Dec; 71(4):623-32. PubMed ID: 11136555
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [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; 46(6):416-20. PubMed ID: 19099776
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 74(1-2):238-47. PubMed ID: 11592820
    [TBL] [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; 75(3):276-9. PubMed ID: 11914040
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 8(1):107-13. PubMed ID: 9887338
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [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; 16(2):353-60. PubMed ID: 8411997
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.
    Yang Q; Xu H; Luo J; Li M; Yi S; Zhang Q; Geng G; Feng S; Fan X
    BMC Med Genet; 2020 Apr; 21(1):72. PubMed ID: 32252659
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
    Yorifuji T; Kawai M; Muroi J; Mamada M; Kurokawa K; Shigematsu Y; Hirano S; Sakura N; Yoshida I; Kuhara T; Endo F; Mitsubuchi H; Nakahata T
    Hum Genet; 2002 Aug; 111(2):161-5. PubMed ID: 12189489
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.