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Article

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

Journal of medical genetics - 1 Apr 2009

Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de Santi M M, Santamaria F, Sacco O, DeLozier-Blanchet C D, Lazor R, Blouin J-L

Abstract excerpt

BACKGROUND: Primary ciliary dyskinesia (PCD) is characterised by recurrent infections of the upper respiratory airways (nose, bronchi, and frontal sinuses) and randomisation of left-right body asymmetry. To date, PCD is mainly described with autosomal recessive inheritance and mutations have been found in five genes: the dynein arm protein subunits DNAI1, DNAH5 and DNAH11, the kinase TXNDC3, and the X-linked...

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Source

Identifiers

PMID: 19357118
DOI: 10.1136/jmg.2008.061176

Genes

DNAH5
DNAH11
DNAI1
RPGR

Provenance

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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Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.PMID 19357118Read ↗

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