Gyrate atrophy of the choroid and retina : Lymphocyte ornithine-δ-aminotransferase activity in different mutations and carriers

Deficiency of omithine-delta-aminotransferase (OAT) causes gyrate atrophy of the choroid and retina with hyperornithinemia (GA; McKusick 258870), a progressive autosomal recessive chorioretinal degeneration leading to early blindness. As residual enzyme activity may vary in different mutations of th...

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