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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Alex Gileles-Hillel, Hagar Mor-Shaked, David Shoseyov, Joel Reiter, Reuven Tsabari, Avigdor Hevroni, Malena Cohen-Cymberknoh, Israel Amirav, Shuli Brammli-Greenberg, Amjad Horani, Eitan Kerem, Oded Breuer
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	European Respiratory Society 2020-12-01
Цуврал:	ERJ Open Research
Онлайн хандалт:	http://openres.ersjournals.com/content/6/4/00213-2020.full
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!