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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Bibliografski detalji
Izdano u:J Med Genet
Glavni autori: Feldmann, D, Rozet, J M, Pelet, A, Hentzen, D, Briand, P, Hubert, P, Largilliere, C, Rabier, D, Farriaux, J P, Munnich, A
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 1992
Teme:
Research Article
Online pristup: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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