Mutations and polymorphisms in the human ornithine transcarbamylase gene

Human Mutation

Volumn 19, Issue 2, 2002, Pages 93-107

  Tuchman, Mendel ^a,b   Jaleel, Naser ^a   Morizono, Hiroki ^a   Sheehy, Lisa ^a,b   Lynch, Michael G ^a  

^a GEORGE WASHINGTON UNIVERSITY   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

Hyperammonemia; Metabolic disease; Ornithine carbamoyl transferase; Ornithine transcarbamylase; OTC; Private mutations; Urea cycle; X linked

Indexed keywords

AMMONIA; NITROGEN; ORNITHINE CARBAMOYLTRANSFERASE; UREA;

ALLELE; DNA POLYMORPHISM; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HYPERAMMONEMIA; INTRON; NUCLEOTIDE SEQUENCE; ONSET AGE; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; REGULATOR GENE; REVIEW; X CHROMOSOME LINKAGE;

EXONS; HUMANS; HYPERAMMONEMIA; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; PHENOTYPE; POLYMORPHISM, GENETIC; PROTEIN CONFORMATION;

EID: 0036164461     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10035     Document Type: Review

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