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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Détails bibliographiques
Publié dans:J Med Genet
Auteurs principaux: Feldmann, D, Rozet, J M, Pelet, A, Hentzen, D, Briand, P, Hubert, P, Largilliere, C, Rabier, D, Farriaux, J P, Munnich, A
Format: Artigo
Langue:Inglês
Publié: BMJ Publishing Group 1992
Sujets:
Research Article
Accès en ligne: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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