Site specific screening for point mutations in ornithine transcarbamylase deficiency.

Ornithine transcarbamylase (OTC) deficiency is a frequent X linked disorder of the urea cycle which is responsible for lethal neonatal hyperammonaemia in males and for various clinical symptoms in heterozygous females. In order to improve the efficiency of our screening for mutant genotypes, we focu...

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Autores principales: Feldmann, D, Rozet, J M, Pelet, A, Hentzen, D, Briand, P, Hubert, P, Largilliere, C, Rabier, D, Farriaux, J P, Munnich, A
Formato: Artigo
Lenguaje:Inglês
Publicado: 1992
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016021/
https://ncbi.nlm.nih.gov/pubmed/1353535
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