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Article

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

Journal of human genetics - 1 Jun 2023

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

Abstract excerpt

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, we aimed to determine the prevalence and founder effect of this variant in the Korean population. Using an...

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PMID: 36747106
DOI: 10.1038/s10038-023-01122-8

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