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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Elsevier 2009
विषय:
Report
ऑनलाइन पहुंच: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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