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...

Descripción completa

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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308995/
https://www.ncbi.nlm.nih.gov/pubmed/22448264
http://dx.doi.org/10.1371/journal.pone.0033667

Ejemplares similares