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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Bibliografski detalji
Izdano u:J Clin Invest
Glavni autori: Mitchell, G A, Brody, L C, Looney, J, Steel, G, Suchanek, M, Dowling, C, Der Kaloustian, V, Kaiser-Kupfer, M, Valle, D
Format: Artigo
Jezik:Inglês
Izdano: American Society for Clinical Investigation 1988
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC329615/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3339136/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113365
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