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Article

Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia.

Pediatric pulmonology - 1 Sept 2012

Djakow Jana, Svobodová Tamara, Hrach Karel, Uhlík Jiří, Cinek Ondřej, Pohunek Petr

Abstract excerpt

INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare genetically heterogenous condition. Mutations in DNAH5 or DNAI1 genes can be found in about a third of the patients with PCD. Increased occurrence of mutations was described in several exons of these long genes. The objective of the study was to test the sensitivity of sequencing of selected 13 exons (as compared to costly sequencing of all 100 exons of the...

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Source

Identifiers

PMID: 22416021
DOI: 10.1002/ppul.22520

Genes

DNAH5
DNAI1

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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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