Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene

Human Mutation

Volumn 27, Issue 7, 2006, Pages 626-632

  Yamaguchi, Saori ^a   Brailey, Lisa L ^b   Morizono, Hiroki ^c   Bale, Allen E ^b   Tuchman, Mendel ^c,d  

^a UNIVERSITY OF MARYLAND   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c GEORGE WASHINGTON UNIVERSITY   (United States)

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

Author keywords

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

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE; SIGNAL PEPTIDE; UREA;

BRAIN DAMAGE; BRAIN DEATH; CLINICAL FEATURE; CODON; CONSENSUS SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENOME; HETEROZYGOTE; HUMAN; HYPERAMMONEMIA; INTRON; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; OTC GENE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS; UREA CYCLE; X CHROMOSOME LINKED DISORDER;

AMINO ACID SEQUENCE; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, PROTEIN;

EID: 33745686059     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20339     Document Type: Review

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