A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4-Reference-Cited by-同舟云学术

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A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4

Published:2017-02-15 Issue:2 Volume:58 Page:1008
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Oki Ryoko¹,Yamada Kisaburo¹,Nakano Satoko¹,Kimoto Kenichi¹,Yamamoto Ken²,Kondo Hiroyuki³,Kubota Toshiaki¹

Affiliation:

1. Department of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan

2. Department of Medical Biochemistry, Kurume University School of Medicine, Kurume, Japan

3. Department of Ophthalmology, School of Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, Japan

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Cited by 9 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. Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case;Molecular Genetics & Genomic Medicine;2024-02

2. Foveal hypoplasia in parents of patients with albinism;Ophthalmic Genetics;2022-09-13

3. Optical Coherence Tomography as a Biomarker for Differential Diagnostics in Nystagmus: Ganglion Cell Layer Thickness Ratio;Journal of Clinical Medicine;2022-08-23

4. A Superpower Tree Mapping and Tracing (STMT) Algorithm for OCA Sub-types Classification and Associated Risk Factors Identification;Wireless Personal Communications;2020-11-27

5. Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs*7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India;Clinical and Experimental Dermatology;2019-12-13

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