Literature DB >> 8081398

Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.

T Matsuura1, R Hoshide, K Kiwaki, S Komaki, E Koike, F Endo, K Oyanagi, Y Suzuki, I Kato, K Ishikawa.   

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Year:  1994        PMID： 8081398     DOI： 10.1002/humu.1380030415

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  6 in total

1.  Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency.

Authors:  Jing Liu; Lei Dong; Yan Wang; Mei Zhang
Journal:  Int J Clin Exp Med       Date:  2015-02-15

2.  Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.

Authors:  I Matsuda; T Matsuura; A Nishiyori; S Komaki; R Hoshide; T Matsumoto; M Funakoshi; K Kiwaki; F Endo; A Hata; M Shimadzu; M Yoshino
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

3.  A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency.

Authors:  M A García-Pérez; P S Paz Briones; M J García-Munñoz; V Rubio
Journal:  Hum Genet       Date:  1995-11       Impact factor: 4.132

4.  Identification of four novel splice site mutations in the ornithine transcarbamylase gene.

Authors:  E Oppliger Leibundgut; B Wermuth; J P Colombo; S Liechti-Gallati
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132

5.  Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.

Authors:  Ana Rivera-Barahona; Rocío Sánchez-Alcudia; Hiu Man Viecelli; Veronique Rüfenacht; Belén Pérez; Magdalena Ugarte; Johannes Häberle; Beat Thöny; Lourdes Ruiz Desviat
Journal:  PLoS One       Date:  2015-04-08       Impact factor: 3.240

6.  Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).

Authors:  Alexander Laemmle; Renata C Gallagher; Adrian Keogh; Tamar Stricker; Matthias Gautschi; Jean-Marc Nuoffer; Matthias R Baumgartner; Johannes Häberle
Journal:  PLoS One       Date:  2016-04-12       Impact factor: 3.240
  6 in total

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