Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population

Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population

Abstract Background Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional impairment of cilia throughout the body. The involvement of copy number variation (CNV) in the development of PCD is largely unknown. Methods We examined 93 Japanese patients with clinically suspecte...

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Bibliographic Details
Main Authors: Kazuhiko Takeuchi, Yifei Xu, Masako Kitano, Kazuki Chiyonobu, Miki Abo, Koji Ikegami, Satoru Ogawa, Makoto Ikejiri, Mitsuko Kondo, Shimpei Gotoh, Mizuho Nagao, Takao Fujisawa, Kaname Nakatani
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
copy number variation
DRC1
ultrastructure
Online Access:https://doi.org/10.1002/mgg3.1137

Internet

https://doi.org/10.1002/mgg3.1137

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