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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: McClatchey, A I, Kaufman, D L, Berson, E L, Tobin, A J, Shih, V E, Gusella, J F, Ramesh, V
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1990
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683684/
https://ncbi.nlm.nih.gov/pubmed/2220818
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