Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants

Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants

Abstract Background Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease featured by lung cysts, spontaneous pneumothorax, fibrofolliculomas and renal tumors. The causative gene for BHDS is the folliculin (FLCN) gene and more than 200 mutations have been reported in FLCN, mostly truncatin...

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Bibliographic Details
Main Authors: Keqiang Liu, Wenshuai Xu, Xinlun Tian, Meng Xiao, Xinyue Zhao, Qianli Zhang, Tao Qu, Jiaxing Song, Yaping Liu, Kai-Feng Xu, Xue Zhang
Format: Article
Language:English
Published: BMC 2019-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Birt-Hogg-Dubé syndrome (BHDS)
FLCN
Mutation spectrum
Clinical manifestations
Minigene assay
Non-truncating mutation
Online Access:http://link.springer.com/article/10.1186/s13023-019-1198-y

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http://link.springer.com/article/10.1186/s13023-019-1198-y

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