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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Vydáno v:Front Cell Dev Biol
Hlavní autoři: Wang, Junwen, Xiao, Xueshan, Li, Shiqiang, Wang, Panfeng, Sun, Wenmin, Zhang, Qingjiong
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2021
Témata:
Cell and Developmental Biology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7935555/
https://ncbi.nlm.nih.gov/pubmed/33681214
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcell.2021.634478
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