Novel compound heterozygous CCDC40 mutations in a familial case of primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by motile ciliary dysfunction and impaired ultrastructure. Despite numerous studies, the genetic basis for about 30% of PCD cases remains to be elucidated. Here, we present the identification and functional analysis of two nov...

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Váldodahkkit: Liqing Zhao (Dahkki), Suqiu Huang (Dahkki), Wei Wei (Dahkki), Bingyao Zhang (Dahkki), Wenxiang Shi (Dahkki), Yongzhou Liang (Dahkki), Rang Xu (Dahkki), Yurong Wu (Dahkki)
Materiálatiipa: Girji
Almmustuhtton: Frontiers Media S.A., 2022-09-01T00:00:00Z.
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3rd Floor Main Library

oažžasuvvan: 3rd Floor Main Library
Hildobáiki: A1234.567
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