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

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 truncating mutati...

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Detalles Bibliográficos
Autores principales:	Liu, Keqiang, Xu, Wenshuai, Tian, Xinlun, Xiao, Meng, Zhao, Xinyue, Zhang, Qianli, Qu, Tao, Song, Jiaxing, Liu, Yaping, Xu, Kai-Feng, Zhang, Xue
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794894/ https://www.ncbi.nlm.nih.gov/pubmed/31615547 http://dx.doi.org/10.1186/s13023-019-1198-y

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