Associated Papers
Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina.
Floriani F et al.
International Journal of Molecular Sciences, 2023
Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina.
Montioli R et al.
Frontiers in Molecular Biosciences, 2021
34395527 (PubMed )
Supplement: DataSheet1.PDF
OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.
Katagiri S et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2014
Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy.
Mashima YG et al.
Ophthalmic Genetics, 1999
A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.
Molaei Ramshe S et al.
Journal of Ophthalmic & Vision Research, 0
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