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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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 em: BMJ Publishing Group 1992
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016021/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1353535/
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados