Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome

Birt-Hogg-Dube syndrome (BHD, OMIM#135150) is a rare disease in clinic; it is characterized by skin fibrofolliculomas, pulmonary cysts with an increased risk of recurrent pneumothorax, renal cysts, and renal neoplasms. Previous studies have demonstrated that variants in folliculin (FLCN, NM_144997)...

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Detalles Bibliográficos
Autores principales: Liu, Lv, Yang, Kai, Wang, Xiang, Shi, Zhihui, Yang, Yifeng, Yuan, Yu, Guo, Ting, Xiao, Xiaocui, Luo, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529666/
https://www.ncbi.nlm.nih.gov/pubmed/28785590
http://dx.doi.org/10.1155/2017/8751384

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529666/
https://www.ncbi.nlm.nih.gov/pubmed/28785590
http://dx.doi.org/10.1155/2017/8751384

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