Article
A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.
Respiratory research - 27 May 2016
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
Abstract excerpt
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 deletions and duplications of the mutations. These molecular findings are generally obtained by disparate methods including...
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