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

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 suspected PCD f...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Genet Genomic Med
Auteurs principaux: Takeuchi, Kazuhiko, Xu, Yifei, Kitano, Masako, Chiyonobu, Kazuki, Abo, Miki, Ikegami, Koji, Ogawa, Satoru, Ikejiri, Makoto, Kondo, Mitsuko, Gotoh, Shimpei, Nagao, Mizuho, Fujisawa, Takao, Nakatani, Kaname
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2020
Sujets:
Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057087/
https://ncbi.nlm.nih.gov/pubmed/31960620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1137
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