Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.

Human mutation

Volumn 19, Issue 2, 2002, Pages 185-186

  Climent, Consuelo ^a   Rubio, Vicente ^a  

^a INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ADULT; ARTICLE; CHILD; CPG ISLAND; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYMOLOGY; EXON; FEMALE; GENE DELETION; GENETIC POLYMORPHISM; GENETICS; HUMAN; INFANT; INTRON; MALE; MISSENSE MUTATION; ONSET AGE; PRESCHOOL CHILD; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CPG ISLANDS; EXONS; FEMALE; HUMANS; INFANT; INTRONS; MALE; MUTATION, MISSENSE; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 0036479950     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9011     Document Type: Article

References (0)