326 related articles for article (PubMed ID: 15464417)
1. Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR; Pérez B; Pérez-Cerdá C; Rodríguez-Pombo P; Clavero S; Ugarte M
Mol Genet Metab; 2004; 83(1-2):28-37. PubMed ID: 15464417
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
3. Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.
Muro S; Pérez B; Desviat LR; Rodríguez-Pombo P; Pérez-Cerdá C; Clavero S; Ugarte M
Mol Genet Metab; 2001 Dec; 74(4):476-83. PubMed ID: 11749052
[TBL] [Abstract][Full Text] [Related]
4. 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
[TBL] [Abstract][Full Text] [Related]
5. 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; 14(1):89-90. PubMed ID: 10447268
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
Pérez-Cerdá C; Merinero B; Rodríguez-Pombo P; Pérez B; Desviat LR; Muro S; Richard E; García MJ; Gangoiti J; Ruiz Sala P; Sanz P; Briones P; Ribes A; Martínez-Pardo M; Campistol J; Pérez M; Lama R; Murga ML; Lema-Garrett T; Verdú A; Ugarte M
Eur J Hum Genet; 2000 Mar; 8(3):187-94. PubMed ID: 10780784
[TBL] [Abstract][Full Text] [Related]
8. 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; 1638(1):43-9. PubMed ID: 12757933
[TBL] [Abstract][Full Text] [Related]
9. 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]
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
[TBL] [Abstract][Full Text] [Related]
11. 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; 81(4):335-42. PubMed ID: 15059621
[TBL] [Abstract][Full Text] [Related]
12. High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.
Desviat LR; Sanchez-Alcudia R; Pérez B; Pérez-Cerdá C; Navarrete R; Vijzelaar R; Ugarte M
Mol Genet Metab; 2009 Apr; 96(4):171-6. PubMed ID: 19157943
[TBL] [Abstract][Full Text] [Related]
13. Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.
Chiu YH; Liu YN; Liao WL; Chang YC; Lin SP; Hsu CC; Chiu PC; Niu DM; Wang CH; Ke YY; Chien YH; Hsiao KJ; Liu TT
Biochem Genet; 2014 Oct; 52(9-10):415-29. PubMed ID: 24863100
[TBL] [Abstract][Full Text] [Related]
14. 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
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. [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]
18. 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
[TBL] [Abstract][Full Text] [Related]
19. 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; 1740(3):489-98. PubMed ID: 15949719
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
