Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, reduced fertility, and randomization of the left/right body axis. It is caused by defects of motile cilia and sperm flagella. We screened a cohort of affected individuals that lack an obvious axonemal defect for pathogenic...

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Detalles Bibliográficos
Autores principales: Bustamante-Marin, Ximena M., Horani, Amjad, Stoyanova, Mihaela, Charng, Wu-Lin, Bottier, Mathieu, Sears, Patrick R., Yin, Wei-Ning, Daniels, Leigh Anne, Bowen, Hailey, Conrad, Donald F., Knowles, Michael R., Ostrowski, Lawrence E., Zariwala, Maimoona A., Dutcher, Susan K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444499/
https://www.ncbi.nlm.nih.gov/pubmed/32764743
http://dx.doi.org/10.1371/journal.pgen.1008691

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