Literature DB >> 2011544

Ornithine transcarbamylase polymorphism detected by PCR introduction of DraI site.

E M Petty1, R Carstens, A E Bale.   

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Year:  1991        PMID： 2011544      PMCID： PMC333689          DOI： 10.1093/nar/19.3.690

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  3 in total

1.  Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.

Authors:  A L Horwich; W A Fenton; K R Williams; F Kalousek; J P Kraus; R F Doolittle; W Konigsberg; L E Rosenberg
Journal:  Science       Date:  1984-06-08       Impact factor: 47.728

2.  Structure of the human ornithine transcarbamylase gene.

Authors:  A Hata; T Tsuzuki; K Shimada; M Takiguchi; M Mori; I Matsuda
Journal:  J Biochem       Date:  1988-02       Impact factor: 3.387

3.  Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus.

Authors:  V Lindgren; B de Martinville; A L Horwich; L E Rosenberg; U Francke
Journal:  Science       Date:  1984-11-09       Impact factor: 47.728
  3 in total
  3 in total

1.  Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.

Authors:  S Genet; T Cranston; H R Middleton-Price
Journal:  J Inherit Metab Dis       Date:  2000-11       Impact factor: 4.982

2.  Sequence variations in the first exon of alpha-galactosidase A.

Authors:  J P Davies; B G Winchester; S Malcolm
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

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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