Literature DB >> 8281162

Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene.

S Strautnieks1, S Malcolm.   

Abstract

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Year:  1993        PMID： 8281162     DOI： 10.1093/hmg/2.11.1963

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  3 in total

1.  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

2.  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

3.  Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity.

Authors:  M A García-Pérez; P Sanjurjo; V Rubio
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132
  3 in total

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