Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa

Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa

Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, and 15–25% of RP is transmitted as an autosomal dominant (ad) trait. The objectives of this study were to establish the variant profile in a large cohort of adRP families and to elucidate the variant spectrum of each a...

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Bibliographic Details
Main Authors: Ting Xiao, Yue Xie, Xin Zhang, Ke Xu, Xiaohui Zhang, Zi-Bing Jin, Yang Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
autosomal dominant retinitis pigmentosa
next-generation sequencing
diseasing-causing variant
copy number variation
variant profile
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2020.629994/full

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https://www.frontiersin.org/articles/10.3389/fcell.2020.629994/full

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