Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.

doi:10.1007/BF01799346

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Article

Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.

Journal of inherited metabolic disease - 1 Jan 1996

Yoo H W, Kim G H, Lee D H

Abstract excerpt

Ornithine transcarbamylase (OTC) deficiency, an X-linked inborn error of the urea cycle, is known to be heterogeneous genetically as well as phenotypically. Molecular defects of Korean patients with OTC deficiency have not been reported. To investigate molecular lesions resulting in OTC deficienc...

Topics

Alleles
Amino Acids
Base Sequence
Cell Line
DNA
Exons
Family
Female
Heterozygote
Humans
Infant
Infant, Newborn
Korea
Male
Molecular Sequence Data
Mutation
Ornithine Carbamoyltransferase
Ornithine Carbamoyltransferase Deficiency Disease

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