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Akira Hata

Kumamoto University

14

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354

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A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency

1991 Human Genetics
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Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency

1989 Clinica Chimica Acta
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Deduced amino acid sequence of human prolidase and molecular analyses of prolidase deficiency

1989 Journal of Inherited Metabolic Disease
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Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.

1989 American Journal of Human Genetics
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Structure of the human ornithine transcarbamylase gene

1988 Journal of Biochemistry
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STRUCTURE OF HUMAN ORNITHINE TRANSCARBAMYLASE GENE

1988 Journal of Biochemistry
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Structural organization of the human ornithine transcarbamylase gene

1988 Journal of Inherited Metabolic Disease
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Immunochemical analysis of prolidase deficiency and molecular cloning of cDNA for prolidase of human liver

1987 Journal of Inherited Metabolic Disease
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Attempts to Investigate the Molecular Basis of Urea Cycle Disorders

1987 Pediatrics International
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Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5'-end region.

1986 Journal of Biochemistry
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Citations (32)