Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.

Gyrate atrophy (GA), a recessive eye disease involving progressive loss of vision due to chorioretinal degeneration, is associated with a deficiency of the mitochondrial enzyme ornithine aminotransferase (OATase; ornithine-oxo-acid aminotransferase; L-ornithine:2-oxo-acid aminotransferase, EC 2.6.1....

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Bibliografiska uppgifter
Huvudupphovsmän: Ramesh, V, McClatchey, A I, Ramesh, N, Benoit, L A, Berson, E L, Shih, V E, Gusella, J F
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1988
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC280301/
https://ncbi.nlm.nih.gov/pubmed/3375240
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