Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia

The diagnosis of primary ciliary dyskinesia (PCD) relies on clinical features and sophisticated studies. The detection of bi-allelic disease-causing variants confirms the diagnosis. However, a standardised genetic panel is not widely available and new disease-causing genes are continuously identifie...

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Dettagli Bibliografici
Pubblicato in:ERJ Open Res
Autori principali: Gileles-Hillel, Alex, Mor-Shaked, Hagar, Shoseyov, David, Reiter, Joel, Tsabari, Reuven, Hevroni, Avigdor, Cohen-Cymberknoh, Malena, Amirav, Israel, Brammli-Greenberg, Shuli, Horani, Amjad, Kerem, Eitan, Breuer, Oded
Natura: Artigo
Lingua:Inglês
Pubblicazione: European Respiratory Society 2020
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7792814/
https://ncbi.nlm.nih.gov/pubmed/33447612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1183/23120541.00213-2020
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