Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly)-Reference-Cited by-同舟云学术

Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly)

Published:2018-04-09 Issue:3 Volume:39 Page:357-365
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Katagiri Satoshi¹,Hayashi Takaaki¹²,Mizobuchi Kei¹,Yoshitake Kazutoshi³,Iwata Takeshi³,Nakano Tadashi¹

Affiliation:

1. Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan

2. Department of Ophthalmology, Katsushika Medical Center, The Jikei University School of Medicine, Tokyo, Japan

3. National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science Grant-in-Aid for Scientific Research

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2018.1459737

Reference35 articles.

1. Retinitis pigmentosa

2. Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene

3. Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci

4. A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

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