159 related articles for article (PubMed ID: 7627182)
21. [Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency].
Chen Z; Wen P; Wang G; Liu X; Chen L; Chen S; Wan L; Cui D; Shang Y; Li C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct; 31(5):565-9. PubMed ID: 25297582
[TBL] [Abstract][Full Text] [Related]
22. Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.
Ausems MG; Bakker E; Berger R; Duran M; van Diggelen OP; Keulemans JL; de Valk HW; Kneppers AL; Dorland L; Eskes PF; Beemer FA; Poll-The BT; Smeitink JA
Am J Med Genet; 1997 Jan; 68(2):236-9. PubMed ID: 9028466
[TBL] [Abstract][Full Text] [Related]
23. Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.
Oppliger Leibundgut EO; Wermuth B; Colombo JP; Liechti-Gallati S
Hum Mutat; 1996; 8(4):333-9. PubMed ID: 8956038
[TBL] [Abstract][Full Text] [Related]
24. A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy.
Schimanski U; Krieger D; Horn M; Stremmel W; Wermuth B; Theilmann L
Hepatology; 1996 Dec; 24(6):1413-5. PubMed ID: 8938172
[TBL] [Abstract][Full Text] [Related]
25. Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene.
Azevedo L; Climent C; Vilarinho L; Calafell F; Amorim A
Hum Mutat; 2004 Sep; 24(3):273. PubMed ID: 15300856
[TBL] [Abstract][Full Text] [Related]
26. An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.
Lee JT; Nussbaum RL
J Clin Invest; 1989 Dec; 84(6):1762-6. PubMed ID: 2556444
[TBL] [Abstract][Full Text] [Related]
27. In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.
Suriano G; Azevedo L; Novais M; Boscolo B; Seruca R; Amorim A; Ghibaudi EM
Hum Mol Genet; 2007 Sep; 16(18):2209-14. PubMed ID: 17613537
[TBL] [Abstract][Full Text] [Related]
28. [Clinical and gene mutation analyses of three patients with ornithine carbamoyltransferase deficiency].
Mo WQ; Liu L; Chen YY; Cheng J; Li XZ; Zhou ZH; Mao XJ; Zhang W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Jun; 28(3):328-31. PubMed ID: 21644234
[TBL] [Abstract][Full Text] [Related]
29. [Analysis of clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency].
Wang Y; Liu X; Wu H; Liu H; Wang C; He X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Apr; 31(2):148-51. PubMed ID: 24711021
[TBL] [Abstract][Full Text] [Related]
30. Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.
Dobrowolski SF; Ellingson CE; Caldovic L; Tuchman M
Hum Mutat; 2007 Nov; 28(11):1133-40. PubMed ID: 17565723
[TBL] [Abstract][Full Text] [Related]
31. In vivo assessment of mutations in OTC for dominant-negative effects following rAAV2/8-mediated gene delivery to the mouse liver.
Ginn SL; Cunningham SC; Zheng M; Spinoulas A; Carpenter KH; Alexander IE
Gene Ther; 2009 Jun; 16(6):820-3. PubMed ID: 19357713
[TBL] [Abstract][Full Text] [Related]
32. OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.
Lee JH; Kim GH; Yoo HW; Cheon CK
Pediatr Neurol; 2014 Sep; 51(3):354-359.e1. PubMed ID: 25011434
[TBL] [Abstract][Full Text] [Related]
33. Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency.
Hoshide R; Matsuura T; Komaki S; Koike E; Ueno I; Matsuda I
J Inherit Metab Dis; 1993; 16(5):857-62. PubMed ID: 8295401
[No Abstract] [Full Text] [Related]
34. Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency.
Li S; Cai Y; Shi C; Liu M; Liu B; Lin L; Xiao X; Hao H
Med Sci Monit; 2018 Oct; 24():7431-7437. PubMed ID: 30333473
[TBL] [Abstract][Full Text] [Related]
35. Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
Maddalena A; Spence JE; O'Brien WE; Nussbaum RL
J Clin Invest; 1988 Oct; 82(4):1353-8. PubMed ID: 3170748
[TBL] [Abstract][Full Text] [Related]
36. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.
Tuchman M; Morizono H; Rajagopal BS; Plante RJ; Allewell NM
J Inherit Metab Dis; 1998; 21 Suppl 1():40-58. PubMed ID: 9686344
[TBL] [Abstract][Full Text] [Related]
37. Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.
Shimadzu M; Matsumoto H; Matsuura T; Kobayashi K; Komaki S; Kiwaki K; Hoshide R; Endo F; Saheki T; Matsuda I
Hum Mutat; 1998; Suppl 1():S5-7. PubMed ID: 9452024
[No Abstract] [Full Text] [Related]
38. Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency in an adult woman: identification of novel missense mutations.
Tanaka A; Wada T; Maruyama M; Tanaka A; Takikawa H; Komatsu Y
J Gastroenterol; 2005 Jan; 40(1):106-7. PubMed ID: 15692798
[No Abstract] [Full Text] [Related]
39. Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.
García-Pérez MA; Climent C; Briones P; Vilaseca MA; Rodés M; Rubio V
J Inherit Metab Dis; 1997 Nov; 20(6):769-77. PubMed ID: 9427144
[TBL] [Abstract][Full Text] [Related]
40. Expression analysis of two mutant human ornithine transcarbamylases in COS-7 cells.
Kogo T; Satoh Y; Kanazawa M; Yamamoto S; Takayanagi M; Ohtake A; Mori M; Niimi H
J Hum Genet; 1998; 43(1):54-8. PubMed ID: 9609999
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
