A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax

BACKGROUND: Primary spontaneous pneumothorax (PSP) or pulmonary cysts is one of the manifestations of Birt-Hogg-Dube syndrome (BHDS) that is caused by heterozygous mutations in FLCN gene. Most of the mutations are SNVs and small indels, and there are also approximately 10 % large intragenic deletion...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Respir Res
Main Authors: Zhang, Xinxin, Ma, Dehua, Zou, Wei, Ding, Yibing, Zhu, Chengchu, Min, Haiyan, Zhang, Bin, Wang, Wei, Chen, Baofu, Ye, Minhua, Cai, Minghui, Pan, Yanqing, Cao, Lei, Wan, Yueming, Jin, Yu, Gao, Qian, Yi, Long
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2016
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4882857/
https://ncbi.nlm.nih.gov/pubmed/27229674
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12931-016-0377-9
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