Pyridoxine-responsive gyrate atrophy of the choroid and retina : clinical and biochemical correlates of the mutation A226V

We discovered the missense mutation, A226V, in the ornithine-delta-aminotransferase (OAT) genes of two unrelated patients with gyrate atrophy of the choroid and retina (GA). One patient, who was a compound for A226V and for the premature termination allele R398ter, showed a significant (P < .01)...

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Veröffentlicht in:	American journal of human genetics 1995-03, Vol.56 (3), p.616-622
Hauptverfasser:	MICHAUD, J, THOMPSON, G. N, BRODY, L. C, STEEL, G, OBIE, C, FONTAINE, G, SCHAPPERT, K, KEITH, C. G, VALLE, D, MITCHELL, G. A
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Animals Base Sequence Biological and medical sciences Cells, Cultured Child CHO Cells Cricetinae Cricetulus Exons Female Fibroblasts - enzymology Gyrate Atrophy - drug therapy Gyrate Atrophy - enzymology Gyrate Atrophy - genetics Humans Medical sciences Molecular Sequence Data Mutation Ophthalmology Ornithine-Oxo-Acid Transaminase - genetics Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Pyridoxine - therapeutic use Retinopathies
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