Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.

Gyrate atrophy (GA), a recessive eye disease involving progressive vision loss due to chorioretinal degeneration, is associated with the deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT), with consequent hyperornithinemia. We and others have reported a number of missense mutati...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: McClatchey, A I, Kaufman, D L, Berson, E L, Tobin, A J, Shih, V E, Gusella, J F, Ramesh, V
Formato: Artigo
Idioma:Inglês
Publicado em: 1990
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683684/
https://ncbi.nlm.nih.gov/pubmed/2220818
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados