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Article

Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.

PloS one - 1 Jan 2012

Ziętkiewicz Ewa, Bukowy-Bieryłło Zuzanna, Voelkel Katarzyna, Klimek Barbara, Dmeńska Hanna, Pogorzelski Andrzej, Sulikowska-Rowińska Anna, Rutkiewicz Ewa, Witt Michał

Abstract excerpt

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 ciliary ultrastructure, have been recently described. However, the relative involvement of RSPH genes in PCD pathogenesis...

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Identifiers

PMID: 22448264
DOI: 10.1371/journal.pone.0033667
PMCID: PMC3308995

Genes

RSPH9

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