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Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia.

Molecular medicine reports - 1 Dec 2020

Zhou Lei, Li Zhuozhe, Du Chunling, Chen Cuicui, Sun Yingxin, Gu Liang, Zhou Feng, Song Yuanlin

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder caused by dysfunction of the cilia and flagella; however, causative genetic defects have not been detected in all patients with PCD. Seven Chinese Han patients with Kartagener syndrome were enrolled onto the present study. Transmission electron microscopy (TEM) was performed to evaluate the cilial defects and whole‑exome sequencing was...

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Identifiers

PMID: 33174003
DOI: 10.3892/mmr.2020.11562
PMCID: PMC7646867

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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