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Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.

Bioscience reports - 31 Jan 2020

Qu Ling-Hui, Jin Xin, Long Yan-Ling, Ren Jia-Yun, Weng Chuang-Huang, Xu Hai-Wei, Liu Yong, Meng Xiao-Hong, Li Shi-Ying, Yin Zheng-Qin

Abstract excerpt

BACKGROUND: The USH2A gene encodes usherin, a basement membrane protein that is involved in the development and homeostasis of the inner ear and retina. Mutations in USH2A are linked to Usher syndrome type II (USH II) and non-syndromic retinitis pigmentosa (RP). Molecular diagnosis can provide insight into the pathogenesis of these diseases, facilitate clinical diagnosis, and identify individuals who can most...

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Asian People
China
Extracellular Matrix Proteins
Genetic Association Studies
Heredity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Retinitis Pigmentosa

Usher Syndromes

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PMID: 31904091
DOI: 10.1042/BSR20193536
PMCID: PMC6974426

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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