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Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula

Introduction: Primary ciliary dyskinesia (PCD) is caused by dysfunction of motile cilia resulting in insufficient mucociliary clearance of the lungs. The overall aim of this study is to identify disease causing genetic variants for PCD patients in the Kuwaiti population. Methods: A cohort of multipl...

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Detalles Bibliográficos
Autores principales: Al-Mutairi, Dalal A., Alsabah, Basel H., Alkhaledi, Bashar A., Pennekamp, Petra, Omran, Heymut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9596166/
https://www.ncbi.nlm.nih.gov/pubmed/36303540
http://dx.doi.org/10.3389/fgene.2022.1017280