Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients

Journal of Inherited Metabolic Disease

Volumn 22, Issue 1, 1999, Pages 92-93

  Popowska, E ^a   Ciara, E ^a   Rokicki, D ^a   Pronicka, E ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; CLINICAL ARTICLE; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE CARRIER; DNA DETERMINATION; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; PEDIGREE; POLAND; SINGLE STRAND CONFORMATION POLYMORPHISM; SUDDEN INFANT DEATH SYNDROME; UREA CYCLE;

CHILD; FEMALE; HUMANS; MALE; ORNITHINE CARBAMOYLTRANSFERASE; POINT MUTATION; POLAND; RECURRENCE;

EID: 0033064541     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005476021549     Document Type: Article

References (2)

1. Brusilow SW, Horwich AL (1995) Urea cycle enzymes. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1187-1232.
2. Tuchman M, Plante RJ, Garcia-Pérez MA, Rubio V (1996) Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families. Hum Genet 97: 274-276.