At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

Gyrate atrophy of the choroid and retina (GA) is an inherited chorioretinal degeneration caused by deficiency of ornithine delta-aminotransferase (OAT; L-ornithine: 2-oxo-acid aminotransferase; EC 2.6.1.13). GA is one of the "Finnish genetic diseases," a group of several rare monogenic disorders tha...

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Bibliografiske detaljer

Udgivet i:	Proc Natl Acad Sci U S A
Principais autores:	Mitchell, G A, Brody, L C, Sipila, I, Looney, J E, Wong, C, Engelhardt, J F, Patel, A S, Steel, G, Obie, C, Kaiser-Kupfer, M
Format:	Artigo
Sprog:	Inglês
Udgivet:	National Academy of Sciences 1989
Fag:	Research Article
Online adgang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC286431/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2492100/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.86.1.197
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