Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X)

Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X)

Purpose: To report clinical and genetic features of a Japanese patient with end-stage retinitis pigmentosa (RP) caused by a homozygous PDE6A variant. Methods: We performed comprehensive ophthalmic examinations. Whole exome sequencing analysis was used to investigate the RP patient with parental cons...

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Bibliographic Details
Main Authors: Kei Mizobuchi, Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, Kaoru Fujinami, Kazuki Kuniyoshi, Reimi Mishima, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano
Format: Article
Language:English
Published: Elsevier 2019-03-01
Series:American Journal of Ophthalmology Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2451993618300793

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http://www.sciencedirect.com/science/article/pii/S2451993618300793

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