167 related articles for article (PubMed ID: 10447268)
21. 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]
22. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
Martínez MA; Rincón A; Desviat LR; Merinero B; Ugarte M; Pérez B
Mol Genet Metab; 2005 Apr; 84(4):317-25. PubMed ID: 15781192
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
Mozas P; Castillo S; Tejedor D; Reyes G; Alonso R; Franco M; Saenz P; Fuentes F; Almagro F; Mata P; Pocoví M
Hum Mutat; 2004 Aug; 24(2):187. PubMed ID: 15241806
[TBL] [Abstract][Full Text] [Related]
25. [Molecular basis of organic acidemia--propionic acidemia].
Tahara T; Eto Y; Kraus JP; Rosenberg LE
Hum Cell; 1990 Dec; 3(4):311-7. PubMed ID: 2095843
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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]
28. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
Acquaviva C; Benoist JF; Pereira S; Callebaut I; Koskas T; Porquet D; Elion J
Hum Mutat; 2005 Feb; 25(2):167-76. PubMed ID: 15643616
[TBL] [Abstract][Full Text] [Related]
29. Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression.
Obata K; Fukuda T; Morishita R; Abe S; Asakawa S; Yamaguchi S; Yoshino M; Ihara K; Murayama K; Shigemoto K; Shimizu N; Kondo I
Genomics; 2001 Mar; 72(2):145-52. PubMed ID: 11401427
[TBL] [Abstract][Full Text] [Related]
30. Functional characterization of PCCA mutations causing propionic acidemia.
Clavero S; Martínez MA; Pérez B; Pérez-Cerdá C; Ugarte M; Desviat LR
Biochim Biophys Acta; 2002 Nov; 1588(2):119-25. PubMed ID: 12385775
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. 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]
34. A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.
Wang HR; Liu YQ; He XL; Sun J; Zeng FW; Yan CB; Li H; Gao SY; Yang Y
BMC Med Genet; 2020 Aug; 21(1):166. PubMed ID: 32819290
[TBL] [Abstract][Full Text] [Related]
35. [Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].
Chen Z; Wen P; Wang G; Hu Y; Liu X; Chen L; Chen S; Wan L; Cui D; Shang Y; Li C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb; 32(1):26-30. PubMed ID: 25636094
[TBL] [Abstract][Full Text] [Related]
36. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
Jensen HK
Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
[TBL] [Abstract][Full Text] [Related]
37. Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.
Sánchez-Alcudia R; Pérez B; Ugarte M; Desviat LR
Hum Mutat; 2012 Jun; 33(6):973-80. PubMed ID: 22334403
[TBL] [Abstract][Full Text] [Related]
38. Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.
Martín Y; Valero A; del Castillo E; Pascual SI; Hernández-Chico C
Hum Genet; 2002 Mar; 110(3):257-63. PubMed ID: 11935338
[TBL] [Abstract][Full Text] [Related]
39. Molecular analysis of PCCB gene in Korean patients with propionic acidemia.
Kim SN; Ryu KH; Lee EH; Kim JS; Hahn SH
Mol Genet Metab; 2002 Nov; 77(3):209-16. PubMed ID: 12409268
[TBL] [Abstract][Full Text] [Related]
40. A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
Korman SH; Pitt JJ; Boneh A; Dweikat I; Zater M; Meiner V; Gutman A; Brivet M
Mol Genet Metab; 2006 Dec; 89(4):332-8. PubMed ID: 16919490
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
