Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1

In primary ciliary dyskinesia (PCD), genetic defects affecting motility of cilia and flagella cause chronic destructive airway disease, randomization of left-right body asymmetry, and, frequently, male infertility. The most frequent defects involve outer and inner dynein arms (ODAs and IDAs) that ar...

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Autors principals: Mazor, Masha, Alkrinawi, Soliman, Chalifa-Caspi, Vered, Manor, Esther, Sheffield, Val C., Aviram, Micha, Parvari, Ruti
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2011
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3146731/
https://ncbi.nlm.nih.gov/pubmed/21496787
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.03.018
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