Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects

Primary defects in motile cilia result in dysfunction of the apparatus responsible for generating fluid flows. Defects in these mechanisms underlie disorders characterized by poor mucus clearance, resulting in susceptibility to chronic recurrent respiratory infections, often associated with infertil...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Bonnefoy, Serge, Watson, Christopher M., Kernohan, Kristin D., Lemos, Moara, Hutchinson, Sebastian, Poulter, James A., Crinnion, Laura A., Berry, Ian, Simmonds, Jennifer, Vasudevan, Pradeep, O’Callaghan, Chris, Hirst, Robert A., Rutman, Andrew, Huang, Lijia, Hartley, Taila, Grynspan, David, Moya, Eduardo, Li, Chunmei, Carr, Ian M., Bonthron, David T., Leroux, Michel, Boycott, Kym M., Bastin, Philippe, Sheridan, Eamonn G.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6218757/
https://ncbi.nlm.nih.gov/pubmed/30388400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.10.003
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