ZMYND10 - Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare recessive disease with a prevalence of 1/10,000; its symptoms are caused by a kinetic dysfunction of motile cilia in the respiratory epithelium, flagella in spermatozoids, and primary cilia in the embryonic node. PCD is genetically heterogeneous: genotyping...

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Publicado en:PLoS One
Autores principales: Kurkowiak, Małgorzata, Ziętkiewicz, Ewa, Greber, Agnieszka, Voelkel, Katarzyna, Wojda, Alina, Pogorzelski, Andrzej, Witt, Michał
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4732763/
https://ncbi.nlm.nih.gov/pubmed/26824761
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0148067
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