A novel genomic rearrangement on chr19q13.42 leads to <i>PRPF31</i>‐associated retinitis pigmentosa-Reference-Cited by-同舟云学术

A novel genomic rearrangement on chr19q13.42 leads to PRPF31‐associated retinitis pigmentosa

Published:2024-02-27 Issue:5 Volume:52 Page:595-598
ISSN:1442-6404
Container-title:Clinical & Experimental Ophthalmology
language:en
Short-container-title:Clinical Exper Ophthalmology

Author:

Lu Qingxiang¹²,Yang Jingye¹²,Xiong Yu¹²,Zhu Xiaoyan³,Zhang Miao⁴,Zhou Ding'an⁵^ORCID

Affiliation:

1. School of Clinical Laboratory Science Guizhou Medical University Guiyang People's Republic of China

2. Clinical Research Center The Affiliated Hospital of Guizhou Medical University Guiyang People's Republic of China

3. Department of Ophthalmology Guizhou Provincial People's Hospital Guiyang People's Republic of China

4. Endocrine Metabolism Department the Affiliated Hospital of Guizhou Medical University Guiyang People's Republic of China

5. Key Laboratory of Endemic and Ethnic Diseases, Ministry of Education & Key Laboratory of Medical Molecular Biology of Guizhou Province Guizhou Medical University Guiyang People's Republic of China

Funder

National Natural Science Foundation of China

Guizhou Provincial Science and Technology Department

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ceo.14370

Reference5 articles.

1. Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement

2. Alu repeats and human genomic diversity

3. Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

4. Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

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

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