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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Detalles Bibliográficos
Publicado en:J Med Genet
Main Authors: Feldmann, D, Rozet, J M, Pelet, A, Hentzen, D, Briand, P, Hubert, P, Largilliere, C, Rabier, D, Farriaux, J P, Munnich, A
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 1992
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016021/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1353535/
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