Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility, and randomization of the left/right body axis as a result of defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open-reading frame C11orf70 in PCD individuals from...

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書誌詳細
出版年:Am J Hum Genet
主要な著者: Höben, Inga M., Hjeij, Rim, Olbrich, Heike, Dougherty, Gerard W., Nöthe-Menchen, Tabea, Aprea, Isabella, Frank, Diana, Pennekamp, Petra, Dworniczak, Bernd, Wallmeier, Julia, Raidt, Johanna, Nielsen, Kim G., Philipsen, Maria C., Santamaria, Francesca, Venditto, Laura, Amirav, Israel, Mussaffi, Huda, Prenzel, Freerk, Wu, Kaman, Bakey, Zeineb, Schmidts, Miriam, Loges, Niki T., Omran, Heymut
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2018
主題:
Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5986731/
https://ncbi.nlm.nih.gov/pubmed/29727693
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.03.025
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