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)...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Biomed Res Int
Main Authors: Liu, Lv, Yang, Kai, Wang, Xiang, Shi, Zhihui, Yang, Yifeng, Yuan, Yu, Guo, Ting, Xiao, Xiaocui, Luo, Hong
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5529666/
https://ncbi.nlm.nih.gov/pubmed/28785590
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/8751384
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados