Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene-Reference-Cited by-同舟云学术

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Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene

Published:2021-01-19 Issue:3 Volume:42 Page:300-303
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Sen Sagnik¹^ORCID,Kannan Saraswathi Karuvel²,Shanmugam Ulaganathan³,Rajan Renu¹,Babu Naresh¹,Vanniarajan Ayyasamy²^ORCID

Affiliation:

1. Department of Vitreo-retinal Services, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Madurai, India

2. Department of Molecular Genetics, Aravind Medical Research Foundation, Madurai, India

3. Department of Orbit, Oculoplasty and Ocular Oncology, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Madurai, India

Funder

the Department of Biotechnology, Ministry of Science and Technology

Department of Biotechnology, Ministry of Science and Technology

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1870149

Reference15 articles.

1. Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report

2. Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report

3. Ornithine Aminotransferase, an Important Glutamate-Metabolizing Enzyme at the Crossroads of Multiple Metabolic Pathways

4. A late discovery of familial gyrate atrophy of the choroid and retina

5. Inborn Errors of Metabolism: Gyrate Atrophy

Cited by 1 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. Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies;Biomolecules;2023-02-01

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