Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.

A generalized deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy (GA), an autosomal recessive degenerative disease of the retina and choroid of the eye. Mutations in the OAT gene show a high degree of molecular heterogeneity in GA, re...

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Hauptverfasser: Mashima, Y, Murakami, A, Weleber, R G, Kennaway, N G, Clarke, L, Shiono, T, Inana, G
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1992
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682884/
https://ncbi.nlm.nih.gov/pubmed/1609808
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