A single-base change at a splice accepto
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Yukihiko Mashima; Richard G. Weleber; Nancy G. Kennaway; George Inana
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Article
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1992
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Springer
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English
⚖ 307 KB
Gyrate atrophy (GA) is an autosomal recessive eye disease involving a progressive loss of vision due to chorioretinal degeneration in which the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is defective. Two sisters with GA are described in this study in whom an A-to-G substitution at