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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Mitchell, G A, Brody, L C, Looney, J, Steel, G, Suchanek, M, Dowling, C, Der Kaloustian, V, Kaiser-Kupfer, M, Valle, D
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1988
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC329615/
https://ncbi.nlm.nih.gov/pubmed/3339136
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