Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients

Primary ciliary dyskinesia (PCD) is a rare (1/20,000), multisystem disease with a complex phenotype caused by the impaired motility of cilia/flagella, usually related to ultrastructural defects of these organelles. Mutations in genes encoding radial spoke head (RSPH) proteins, elements of the ciliar...

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Autores principales: Ziętkiewicz, Ewa, Bukowy-Bieryłło, Zuzanna, Voelkel, Katarzyna, Klimek, Barbara, Dmeńska, Hanna, Pogorzelski, Andrzej, Sulikowska-Rowińska, Anna, Rutkiewicz, Ewa, Witt, Michał
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3308995/
https://ncbi.nlm.nih.gov/pubmed/22448264
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0033667
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