Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu ‐mediated copy number variations at the PRPF31 locus-Reference-Cited by-全球学者库

Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu ‐mediated copy number variations at the PRPF31 locus

Published:2022-11-09 Issue:12 Volume:43 Page:2279-2294
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Chen Zhixuan¹²³⁴,Chen Jieqiong¹²³⁴,Gao Min¹²³⁴,Liu Yang¹²³⁴,Wu Yidong¹²³⁴,Wang Yafang¹²³⁴,Gong Yuanyuan¹²³⁴,Yu Suqin¹²³⁴,Liu Wenjia¹²³⁴,Wan Xiaoling¹²³⁴^ORCID,Sun Xiaodong¹²³⁴

Affiliation:

1. Department of Ophthalmology, School of Medicine, Shanghai General Hospital (Shanghai First People's Hospital) Shanghai Jiao Tong University Shanghai China

2. Department of Ophthalmology National Clinical Research Center for Eye Diseases Shanghai China

3. Department of Ophthalmology Shanghai Key Laboratory of Fundus Diseases Shanghai China

4. Department of Ophthalmology Shanghai Engineering Center for Visual Science and Photomedicine Shanghai China

Funder

Science and Technology Commission of Shanghai Municipality

Shanghai Hospital Development Center

National Natural Science Foundation of China

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24494

Reference65 articles.

1. A large deletion in the adRP gene PRPF31: Evidence that haploinsufficiency is the cause of disease;Abu‐Safieh L.;Molecular Vision,2006

2. The molecular basis of human retinal and vitreoretinal diseases

3. The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

4. BLAST.https://blast.ncbi.nlm.nih.gov/Blast.cgi

5. Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report

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1. Screening copy number variations in 35 unsolved inherited retinal disease families;Human Genetics;2024-01-29

2. Clinical characterization of patients with PRPF31 -related retinitis pigmentosa and asymptomatic carriers: a cross-sectional study;Ophthalmic Genetics;2023-06-09