At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.-Reference-Cited by-同舟云学术

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At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

Published:1989-01-01 Issue:1 Volume:86 Page:197-201
ISSN:0027-8424
Container-title:Proceedings of the National Academy of Sciences
language:en
Short-container-title:Proceedings of the National Academy of Sciences

Author:

Mitchell G. A.,Brody L. C.,Sipila I.,Looney J. E.,Wong C.,Engelhardt J. F.,Patel A. S.,Steel G.,Obie C.,Kaiser-Kupfer M.

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

Cited by 68 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy;Journal of Ophthalmic and Vision Research;2024-03-10

2. Determination of the pH dependence, substrate specificity, and turnovers of alternative substrates for human ornithine aminotransferase;Journal of Biological Chemistry;2022-06

3. Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects;Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics;2021-01

4. Founder variations in isolated populations;Genome Plasticity in Health and Disease;2020

5. R180T variant of δ‐ornithine aminotransferase associated with gyrate atrophy: biochemical, computational, X‐ray andNMRstudies provide insight into its catalytic features;The FEBS Journal;2019-04-15

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