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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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Publicat a:Proc Natl Acad Sci U S A
Autors principals: 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
Idioma:Inglês
Publicat: National Academy of Sciences 1989
Matèries:
Research Article
Accés en línia: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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