| Autor: |
Yong-Jin, Park, Seog-Ki, Lee, Seong-Ho, Kang, Sook-Jin, Jang, Dae-Soo, Moon, Geon, Park |
| Rok vydání: |
2016 |
| Předmět: |
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| Zdroj: |
Annals of clinical and laboratory science. 46(5) |
| ISSN: |
1550-8080 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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