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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Am J Hum Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2019
Soggetti:
Article
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi