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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 dis...

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Détails bibliographiques
Auteurs principaux: 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
Langue:Inglês
Publié: 1989
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC286431/
https://ncbi.nlm.nih.gov/pubmed/2492100
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