Literature DB >> 2515388

Study of a female patient with ornithine transcarbamylase deficiency: detection of a nonsense mutation.

A Hata1, T Matsuura, C Setoyama, K Shimada, E Takeda, Y Kuroda, I Akaboshi, I Matsuda.   

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Year:  1989        PMID： 2515388     DOI： 10.1007/bf01799239

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


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  9 in total

1.  Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

Authors:  R K Saiki; S Scharf; F Faloona; K B Mullis; G T Horn; H A Erlich; N Arnheim
Journal:  Science       Date:  1985-12-20       Impact factor: 47.728

2.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

3.  Structural organization of the human ornithine transcarbamylase gene.

Authors:  A Hata; T Tsuzuki; K Shimada; M Takiguchi; M Mori; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

4.  New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.

Authors:  R L Nussbaum; B A Boggs; A L Beaudet; S Doyle; J L Potter; W E O'Brien
Journal:  Am J Hum Genet       Date:  1986-02       Impact factor: 11.025

5.  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

6.  Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5'-end region.

Authors:  A Hata; T Tsuzuki; K Shimada; M Takiguchi; M Mori; I Matsuda
Journal:  J Biochem       Date:  1986-09       Impact factor: 3.387

7.  Effect of long-term administration of sodium benzoate to a patient with partial ornithine carbamoyl transferase deficiency.

Authors:  E Takeda; Y Kuroda; K Toshima; T Watanabe; E Naito; M Miyao
Journal:  Clin Pediatr (Phila)       Date:  1983-03       Impact factor: 1.168

8.  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

9.  Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.

Authors:  A Hata; C Setoyama; K Shimada; E Takeda; Y Kuroda; I Akaboshi; I Matsuda
Journal:  Am J Hum Genet       Date:  1989-07       Impact factor: 11.025
  9 in total

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