Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: A hypothesis on the molecular mechanism of the OTC deficiency

Journal of Inherited Metabolic Disease

Volumn 20, Issue 6, 1997, Pages 769-777

  Garcia Perez M A ^a   Climent, C ^a   Briones, P ^b   Vilaseca, M A ^b   Rodes M ^b   Rubio, V ^a  

^a CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^b CSIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGEN; CARBAMOYL PHOSPHATE; ORNITHINE; ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; CASE REPORT; CODON; DISSOCIATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; HUMAN; HYPOTHESIS; LIVER HOMOGENATE; MISSENSE MUTATION; MITOCHONDRION; NEWBORN; NUCLEOTIDE SEQUENCE; PH; PROTEIN DEGRADATION; RESTRICTION SITE;

ANIMALS; BASE SEQUENCE; CODON; DEOXYRIBONUCLEASE HPAII; ENZYME STABILITY; EXONS; HUMANS; HYDROGEN-ION CONCENTRATION; INFANT, NEWBORN; LEUCINE; LIVER; MICE; MOLECULAR SEQUENCE DATA; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; POLYMERASE CHAIN REACTION; PROLINE; RATS; SEQUENCE ANALYSIS, DNA;

EID: 0030727961     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005363600268     Document Type: Article

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