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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Autors principals: Mitchell, G A, Brody, L C, Looney, J, Steel, G, Suchanek, M, Dowling, C, Der Kaloustian, V, Kaiser-Kupfer, M, Valle, D
Format: Artigo
Idioma:Inglês
Publicat: 1988
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC329615/
https://ncbi.nlm.nih.gov/pubmed/3339136
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