Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions

Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions

RP1 truncation variants, including frameshift, nonsense, and splicing, are a common cause of retinitis pigmentosa (RP). RP1 is a unique gene where truncations cause either autosomal dominant RP (adRP) or autosomal recessive RP (arRP) depending on the location of the variants. This study aims to clar...

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Bibliographic Details
Main Authors: Junwen Wang, Xueshan Xiao, Shiqiang Li, Panfeng Wang, Wenmin Sun, Qingjiong Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
RP1
retinitis pigmentosa
exome sequencing
variants
inheritance pattern
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2021.634478/full

Internet

https://www.frontiersin.org/articles/10.3389/fcell.2021.634478/full

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