Eleven-year follow-up of a Japanese retinitis pigmentosa patient with an HK1 gene mutation-Reference-Cited by-同舟云学术

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Eleven-year follow-up of a Japanese retinitis pigmentosa patient with an HK1 gene mutation

Published:2019-09-03 Issue:5 Volume:40 Page:466-469
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Sato Shigeru¹^ORCID,Morimoto Takeshi¹²,Hotta Kikuko³,Fujikado Takashi⁴,Nishida Kohji¹

Affiliation:

1. Department of Ophthalmology, Osaka University Graduate School of Medicine, Osaka, Japan

2. Department of Advanced Visual Neuroscience, Osaka University Graduate School of Medicine, Osaka, Japan

3. Laboratory of Pathophysiology and Pharmacotherapeutics, Faculty of Pharmacy, Osaka Ohtani University, Osaka, Japan

4. Special Research Promotion Group, Osaka University Graduate School of Frontier Biosciences, Osaka, Japan

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1678179

Reference11 articles.

1. Schachat AP, Sadda SR, Hinton DR, Wilkinson CP, Wiedemann P. Ryan’s Retina. Vol. 2. 6th ed. Amsterdam (Netherlands): Elsevier; 2017. 861 p.

2. A Dominant Mutation in Hexokinase 1 (HK1) Causes Retinitis Pigmentosa

3. A Missense Mutation inHK1Leads to Autosomal Dominant Retinitis Pigmentosa

4. A novel compound heterozygous mutation in TTC8 identified in a Japanese patient

Cited by 2 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. Two Japanese Families with Pigmented Paravenous Retinochoroidal Atrophy and HK1 Mutation: A Case Report;Case Reports in Ophthalmology;2024-01-03

2. High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation;Ophthalmic Genetics;2020-08-20

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