Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

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

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Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Loges, Niki Tomas, Olbrich, Heike, Becker-Heck, Anita, Häffner, Karsten, Heer, Angelina, Reinhard, Christina, Schmidts, Miriam, Kispert, Andreas, Zariwala, Maimoona A., Leigh, Margaret W., Knowles, Michael R., Zentgraf, Hanswalter, Seithe, Horst, Nürnberg, Gudrun, Nürnberg, Peter, Reinhardt, Richard, Omran, Heymut
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2009
Konular:
Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2795801/
https://ncbi.nlm.nih.gov/pubmed/19944400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.10.018
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