A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration-Reference-Cited by-同舟云学术

A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration

Published:2013-11-11 Issue:11 Volume:8 Page:e78274
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Lu Fang,Huang Lulin,Lei Chuntao,Sha Guiquan,Zheng Hong,Liu Xiaoqi,Yang Jiyun,Shi Yi,Lin Ying,Gong Bo,Zhu Xianjun,Ma Shi,Qiao Lifeng,Lin He,Cheng Jing,Yang Zhenglin

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

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2. Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11;Genes;2021-06-14

3. Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy;Ophthalmic Genetics;2020-09-27

4. Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy;Experimental Eye Research;2020-03

5. Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins;Molecular Medicine;2019-12-31