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A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
RATIONALE: Primary Ciliary Dyskinesia (PCD) is a genetically heterogeneous condition characterized by progressive lung disease arising from abnormal cilia function. Approximately half of patients have situs inversus. The estimated prevalence of PCD in the UK South Asian population is 1:2,265. Early,...
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| 出版年: | Thorax |
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| 主要な著者: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2017
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5771957/ https://ncbi.nlm.nih.gov/pubmed/28790179 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/thoraxjnl-2017-209999 |
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