Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese popul...
Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population
About this item
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Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
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Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
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Contents
Background
Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional impairment of cilia throughout the body. The involvement of copy number variation (CNV) in the development of PCD is largely unknown.
Methods
We examined 93 Japanese patients with clinically suspected PCD from 84 unrelated families. CNV was examined...
Alternative Titles
Full title
Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population
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TN_cdi_doaj_primary_oai_doaj_org_article_046ed495c81b4aec90de0841f4cd8392
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_046ed495c81b4aec90de0841f4cd8392
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1137
