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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4882857/
https://www.ncbi.nlm.nih.gov/pubmed/27229674
http://dx.doi.org/10.1186/s12931-016-0377-9

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