| Literature DB >> 27650627 |
Yong-Jin Park1, Seog-Ki Lee2, Seong-Ho Kang3, Sook-Jin Jang3, Dae-Soo Moon3, Geon Park4.
Abstract
A novel FLCN c.1489_1490delTG (p.Val497Glyfs*22) mutation at the genomic DNA and mRNA levels was identified in a 43-year-old woman with complaining of recurrent primary spontaneous pneumothorax. The aberrant FLCN mRNA escaped the nonsense-mediated decay system (NMD) because of a premature termination code located in an NMD-incompetent region. To the best of our knowledge, this is the first case report of an FLCN mutation escaping the NMD.Entities:
Keywords: FLCN; Primary spontaneous pneumothorax; nonsense-mediated decay
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Year: 2016 PMID： 27650627
Source DB: PubMed Journal: Ann Clin Lab Sci ISSN： 0091-7370 Impact factor: 1.256