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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Detalles Bibliográficos
Autores principales: Wang, Junwen, Xiao, Xueshan, Li, Shiqiang, Wang, Panfeng, Sun, Wenmin, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7935555/
https://www.ncbi.nlm.nih.gov/pubmed/33681214
http://dx.doi.org/10.3389/fcell.2021.634478

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7935555/
https://www.ncbi.nlm.nih.gov/pubmed/33681214
http://dx.doi.org/10.3389/fcell.2021.634478

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