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Article

A novel DNAH5 variant in a Tunisian patient with primary ciliary dyskinesia.

Journal of genetics - 1 Jan 2020

Mani Rahma, Bouguila JihèNe, Ameur Salma Ben, Hachicha Mongia, Soua Zohra, Mabrouk Imed

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous hereditary disease caused by the structural abnormalities and dysfunction of motile cilia. The DNAH5 is the most frequently mutated gene in PCD patients and hot spot exons were reported in this gene. Here, we aim to screen mutations in a set of five hot spot exons of DNAH5 gene in a cohort of 10 clinically diagnosed Tunisian PCD patients using an...

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PMID: 32089523

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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