Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder affecting ciliary structure and function. PCD exhibiting dynein regulatory complex subunit 1 (DRC1) exon 1-4 deletion has been reported in several Japanese PCD patients; however, no large scale studies have been performed. Here...

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Veröffentlicht in:	Journal of human genetics 2023-06, Vol.68 (6), p.369-374
Hauptverfasser:	Kim, Man Jin, Kim, Sheehyun, Chae, Seung Won, Lee, Seungbok, Yoon, Jihoon G, Kim, Boram, Lee, Jee-Soo, Chae, Jong Hee, Seong, Moon-Woo, Moon, Jangsup
Format:	Artikel
Sprache:	eng
Schlagworte:	Axonemal Dyneins - genetics Ciliary Motility Disorders - epidemiology Ciliary Motility Disorders - genetics Copy number DNA Copy Number Variations Dynein Dyskinesia Exons - genetics Founder Effect Gene deletion Genetic screening Genomes Haplotypes Humans Microtubule-Associated Proteins - genetics Mutation Population studies Prevalence Primary ciliary dyskinesia Republic of Korea - epidemiology Structure-function relationships
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