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Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development
Cerebrospinal fluid flow is crucial for neurodevelopment and homeostasis of the ventricular system of the brain, with localized flow being established by the polarized beating of the ependymal cell (EC) cilia. Here, we report a homozygous one base-pair deletion, c.1193delT (p.Leu398Glnfs*2), in the...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307780/ https://www.ncbi.nlm.nih.gov/pubmed/30475797 http://dx.doi.org/10.1371/journal.pgen.1007817 |