Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1–4 of DRC1 in Japanese patients with recurrent sinopulmonary infection

BACKGROUND: Diffuse panbronchiolitis (DPB) is a sinopulmonary disease mainly affecting Asian populations. Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder impairing ciliary structure and function. These two disorders are not easily distinguished by clinical signs and symptoms...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Keicho, Naoto, Hijikata, Minako, Morimoto, Kozo, Homma, Sakae, Taguchi, Yoshio, Azuma, Arata, Kudoh, Shoji
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6978274/
https://ncbi.nlm.nih.gov/pubmed/31701675
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1033
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