Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)

BACKGROUND: Mutations in the DNAI1 gene, encoding a component of outer dynein arms of the ciliary apparatus, are the second most important genetic cause of primary ciliary dyskinesia (PCD), the genetically heterogeneous recessive disorder with the prevalence of ~1/20,000. The estimates of the DNAI1...

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Autors principals: Ziętkiewicz, Ewa, Nitka, Barbara, Voelkel, Katarzyna, Skrzypczak, Urszula, Bukowy, Zuzanna, Rutkiewicz, Ewa, Humińska, Kinga, Przystałowska, Hanna, Pogorzelski, Andrzej, Witt, Michał
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2010
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3014902/
https://ncbi.nlm.nih.gov/pubmed/21143860
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1465-9921-11-174
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