An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

Gyrate atrophy of the choroid and retina (GA) is an autosomal recessive chorioretinal degeneration caused by deficiency of the mitochondrial matrix enzyme, ornithine-delta-aminotransferase (OAT). To study the molecular basis of the mutations causing GA, we cloned and sequenced the human OAT cDNA and...

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Détails bibliographiques
Auteurs principaux: Mitchell, G A, Brody, L C, Looney, J, Steel, G, Suchanek, M, Dowling, C, Der Kaloustian, V, Kaiser-Kupfer, M, Valle, D
Format: Artigo
Langue:Inglês
Publié: 1988
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Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC329615/
https://ncbi.nlm.nih.gov/pubmed/3339136
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