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Article

Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.

Human mutation - 1 Dec 2014

Alsaadi Muslim M, Erzurumluoglu A Mesut, Rodriguez Santiago, Guthrie Philip A I, Gaunt Tom R, Omar Hager Z, Mubarak Mohammad, Alharbi Khalid K, Al-Rikabi Ammar C, Day Ian N M

Abstract excerpt

Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder characterized by impaired ciliary function that leads to subsequent clinical phenotypes such as chronic sinopulmonary disease. PCD is also a genetically heterogeneous disorder with many single gene mutations leading to similar cl...

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PMID: 25224326
DOI: 10.1002/humu.22698
PMCID: PMC4489323

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25224326-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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