Literature DB >> 6442743

Biochemical heterogeneity of ornithine carbamoyl transferase(OCT) in patients with OCT deficiency.

I Matsuda, N Nagata, K Ohyanagi, A Tsuchiyama, H Yamamoto, Y Hase, H Kodama, Y Kai.   

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Year:  1984        PMID： 6442743     DOI： 10.1007/BF01871248

Source DB:  PubMed          Journal:  Jinrui Idengaku Zasshi        ISSN： 0021-5074


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  5 in total

1.  A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.

Authors:  A Hata; T Matsuura; C Setoyama; K Shimada; T Yokoi; I Akaboshi; I Matsuda
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

2.  Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency.

Authors:  R Hoshide; T Matsuura; S Komaki; E Koike; I Ueno; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

3.  Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency.

Authors:  T Matsuura; R Hoshide; S Komaki; K Kiwaki; F Endo; S Nakamura; T Jitosho; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

4.  Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis.

Authors:  T Matsuura; R Hoshide; M Fukushima; T Sakiyama; M Owada; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

5.  Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes.

Authors:  T Matsuura; R Hoshide; C Setoyama; S Komaki; K Kiwaki; F Endo; S Nishikawa; I Matsuda
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132
  5 in total

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