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Biallelic loss of function NEK3 mutations deacetylate α-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left–right patterning

Defective left–right (LR) organization involving abnormalities in cilia ultrastructure causes laterality disorders including situs inversus (SI) and heterotaxy (Htx) with the prevalence approximately 1/10,000 births. In this study, we describe two unrelated family trios with abnormal cardiac LR patt...

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Detalles Bibliográficos
Autores principales: Zhang, Yuan, Chen, Weicheng, Zeng, Weijia, Lu, Zhouping, Zhou, Xiangyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7684299/
https://www.ncbi.nlm.nih.gov/pubmed/33230144
http://dx.doi.org/10.1038/s41419-020-03214-1