CFAP300 mutation causing primary ciliary dyskinesia in Finland

Primary ciliary dyskinesia (PCD) is a rare genetic condition characterized by chronic respiratory tract infections and in some cases laterality defects and infertility. The symptoms of PCD are caused by malfunction of motile cilia, hair-like organelles protruding out of the cell that are responsible...

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Detalles Bibliográficos
Autores principales: Schultz, Rüdiger, Elenius, Varpu, Fassad, Mahmoud R., Freke, Grace, Rogers, Andrew, Shoemark, Amelia, Koistinen, Tiina, Mohamed, Mai A., Lim, Jacqueline S. Y., Mitchison, Hannah M., Sironen, Anu I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561811/
https://www.ncbi.nlm.nih.gov/pubmed/36246608
http://dx.doi.org/10.3389/fgene.2022.985227

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561811/
https://www.ncbi.nlm.nih.gov/pubmed/36246608
http://dx.doi.org/10.3389/fgene.2022.985227

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