Clinical and Genetic Aspects of Primary Ciliary Dyskinesia / Kartagener Syndrome

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (DNAH5) or intermediate (DNAI1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other gene...

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Hlavní autoři: Leigh, Margaret W., Pittman, Jessica E., Carson, Johnny L., Ferkol, Thomas W., Dell, Sharon D., Davis, Stephanie D., Knowles, Michael R., Zariwala, Maimoona A.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3739704/
https://ncbi.nlm.nih.gov/pubmed/19606528
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GIM.0b013e3181a53562
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