Literature DB >> 2575934

Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency.

I Matsuda1, A Hata, T Matsuura, T Tsuzuki, K Shimada.   

Abstract

Complementary and genomic DNA clones corresponding to human ornithine transcarbamylase (OTC) have been isolated and analyzed. Restriction fragment length polymorphisms (RFCPs) on OTC gene locus were analyzed in Japanese female population. Based on these data, a prenatal diagnosis of OTC deficiency was carried out in a risk family. A C-to-T substitution was found in exon 5 of OTC gene is an another female patient.

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Year:  1989        PMID： 2575934     DOI： 10.1016/0009-8981(89)90218-0

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  3 in total

1.  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

2.  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

3.  Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected].

Authors:  T Matsuura; R Hoshide; C Setoyama; K Shimada; Y Hase; T Yanagawa; M Kajita; I Matsuda
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132
  3 in total

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