Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

Primary ciliary dyskinesia (PCD) is a genetic disorder in which impaired ciliary function leads to chronic airway disease. Exome sequencing of a PCD subject identified an apparent homozygous frameshift variant, c.887_890delTAAG (p.Val296Glyfs(∗)13), in exon 5; this frameshift introduces a stop codon...

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Détails bibliographiques
Publié dans:Am J Hum Genet
Auteurs principaux: Bustamante-Marin, Ximena M., Yin, Wei-Ning, Sears, Patrick R., Werner, Michael E., Brotslaw, Eva J., Mitchell, Brian J., Jania, Corey M., Zeman, Kirby L., Rogers, Troy D., Herring, Laura E., Refabért, Luc, Thomas, Lucie, Amselem, Serge, Escudier, Estelle, Legendre, Marie, Grubb, Barbara R., Knowles, Michael R., Zariwala, Maimoona A., Ostrowski, Lawrence E.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2019
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6372263/
https://ncbi.nlm.nih.gov/pubmed/30665704
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.12.009
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