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Mapping the Most Common Founder Variant in RSPH9 That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs

Introduction: Primary ciliary dyskinesia (PCD) is a congenital thoracic disorder caused by dysfunction of motile cilia, resulting in insufficient mucociliary clearance of the lungs. The overall aim of this study is to identify causative defective genes in PCD-affected individuals in the Kuwaiti popu...

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Detalles Bibliográficos
Autores principales:	Al-Mutairi, Dalal A., Alsabah, Basel H., Pennekamp, Petra, Omran, Heymut
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10607267/ https://www.ncbi.nlm.nih.gov/pubmed/37892643 http://dx.doi.org/10.3390/jcm12206505

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