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Literature DB >> 8295401

Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency.

R Hoshide¹, T Matsuura, S Komaki, E Koike, I Ueno, I Matsuda.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1993 PMID： 8295401 DOI： 10.1007/BF00714278

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

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28 in total

1. Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.

Authors: R P Carstens; W A Fenton; L R Rosenberg
Journal: Am J Hum Genet Date: 1991-06 Impact factor: 11.025

2. Retrospective survey of urea cycle disorders: Part 2. Neurological outcome in forty-nine Japanese patients with urea cycle enzymopathies.

Authors: N Nagata; I Matsuda; T Matsuura; K Oyanagi; K Tada; K Narisawa; T Kitagawa; T Sakiyama; F Yamashita; M Yoshino
Journal: Am J Med Genet Date: 1991-09-15

3. Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.

Authors: D Hentzen; A Pelet; D Feldman; D Rabier; J Berthelot; A Munnich
Journal: Hum Genet Date: 1991-12 Impact factor: 4.132

4. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Authors: M Orita; H Iwahana; H Kanazawa; K Hayashi; T Sekiya
Journal: Proc Natl Acad Sci U S A Date: 1989-04 Impact factor: 11.205

5. Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency.

Authors: A Maddalena; D M Sosnoski; G T Berry; R L Nussbaum
Journal: N Engl J Med Date: 1988-10-13 Impact factor: 91.245

6. 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

Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency.

1. Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.

2. Retrospective survey of urea cycle disorders: Part 2. Neurological outcome in forty-nine Japanese patients with urea cycle enzymopathies.

3. Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.

4. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

5. Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency.

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

7. Biochemical heterogeneity of ornithine carbamoyl transferase(OCT) in patients with OCT deficiency.

8. Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis.

9. Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

10. DNA analysis for ornithine transcarbamylase deficiency.

1. Identification of four novel splice site mutations in the ornithine transcarbamylase gene.