Literature DB >> 7474905

A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency.

K P Zimmer1, T Matsuura, J P Colombo, H G Koch, K Ullrich, T Deufel, E Harms, I Matsuda.   

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Year:  1995        PMID： 7474905     DOI： 10.1007/bf00710430

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 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.  Ultrastructural, immunocytochemical and stereological investigation of hepatocytes in a patient with the mutation of the ornithine transcarbamylase gene.

Authors:  K P Zimmer; I Matsuda; T Matsuura; M Mori; J P Colombo; H D Fahimi; H G Koch; K Ullrich; E Harms
Journal:  Eur J Cell Biol       Date:  1995-05       Impact factor: 4.492

3.  Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.

Authors:  J E Finkelstein; C A Francomano; S W Brusilow; M D Traystman
Journal:  Genomics       Date:  1990-06       Impact factor: 5.736

4.  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
  4 in total

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