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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2009
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Accesso online: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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