ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder caused by defects in motile ciliary function and/or structure. Outer dynein arm docking complex subunit 1 (ODAD1) is an important component of the outer dynein arm docking complex (ODA-DC). To date, 13 likely pathogenic mutatio...

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Detalles Bibliográficos
Autores principales: Zhou, Nannan, Liang, Weilin, Zhang, Yanzhu, Quan, Guoli, Li, Ting, Huang, Siqing, Huo, Yating, Cui, Haiyan, Cheng, Yuanxiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10651219/
https://www.ncbi.nlm.nih.gov/pubmed/38028630
http://dx.doi.org/10.3389/fgene.2023.1270278

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