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Article

Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).

Respiratory research - 8 Dec 2010

Ziętkiewicz Ewa, Nitka Barbara, Voelkel Katarzyna, Skrzypczak Urszula, Bukowy Zuzanna, Rutkiewicz Ewa, Humińska Kinga, Przystałowska Hanna, Pogorzelski Andrzej, Witt Michał

Abstract excerpt

BACKGROUND: Mutations in the DNAI1 gene, encoding a component of outer dynein arms of the ciliary apparatus, are the second most important genetic cause of primary ciliary dyskinesia (PCD), the genetically heterogeneous recessive disorder with the prevalence of ~1/20,000. The estimates of the DNAI1 involvement in PCD pathogenesis differ among the reported studies, ranging from 4% to 10%. METHODS: The coding...

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Identifiers

PMID: 21143860
DOI: 10.1186/1465-9921-11-174
PMCID: PMC3014902

Genes

DNAI1

Provenance

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

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