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

Journal of Inherited Metabolic Disease

Volumn 19, Issue 1, 1996, Pages 31-42

  Yoo, H W ^a   Kim, G H ^a   Lee, D H ^b  

^a University of Ulsan College of Medicine   (South Korea)

^b Soonchunhyang University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

HISTIDINE; ISOLEUCINE; ORNITHINE CARBAMOYLTRANSFERASE; THREONINE; TYROSINE;

ARTICLE; CASE REPORT; CHILD; ENZYME DEFICIENCY; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; HETEROZYGOTE; HUMAN; INFANT; KOREA; MISSENSE MUTATION; MOLECULAR GENETICS; NEWBORN; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRESCHOOL CHILD; UREA CYCLE;

ALLELES; AMINO ACIDS; BASE SEQUENCE; CELL LINE; DNA; EXONS; FAMILY; FEMALE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; KOREA; MALE; MOLECULAR SEQUENCE DATA; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 0029991318     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799346     Document Type: Article

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