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[Clinical and genetic characteristics of a case of primary ciliary dyskinesia caused by new frameshift mutation of the DNAH5 gene].

Zhonghua nan ke xue = National journal of andrology - 1 Jan 2024

Li Meng-Yang, Huang Shan, Ma Li-Na, Wang An-Cong

Abstract excerpt

OBJECTIVE: To investigate the clinical and genetic characteristics of a case of primary ciliary dyskinesia (PCD). METHODS: We collected the clinical data on a case of PCD treated in the Department of Reproductive Medicine of Linyi People's Hospital in July 2020, detected the genes of the patient by whole-exome sequencing (WES), verified the candidate mutations by Sanger sequencing, and predicted the protein...

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PMID: 39046413

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