Article

Multimodal Imaging and Genetic Characteristics of Chinese Patients with USH2A-Associated Nonsyndromic Retinitis Pigmentosa

2020-01-07

Abstract excerpt

<h4>Background: </h4> To determine the clinical characteristics and molecular genetic background responsible for USH2A mutations associated with nonsyndromic retinitis pigmentosa (RP) in five Chinese families, a retrospective cross-sectional study was performed. Data of detailed history and comprehensive ophthalmological examinations were extracted from medical charts. Genomic DNA was sequenced by whole-exome sequ...

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Literature Corpus work: 97478af2-2d1d-5340-ae0f-ea61743d4a24
DOI: 10.21203/rs.2.20220/v1

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