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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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Bibliografiska uppgifter
I publikationen:Front Cell Dev Biol
Huvudupphovsmän: Xiao, Ting, Xie, Yue, Zhang, Xin, Xu, Ke, Zhang, Xiaohui, Jin, Zi-Bing, Li, Yang
Materialtyp: Artigo
Språk:Inglês
Publicerad: Frontiers Media S.A. 2021
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7882618/
https://ncbi.nlm.nih.gov/pubmed/33598457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcell.2020.629994
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