Haploinsufficiency of the folliculin gene leads to impaired functions of lung fibroblasts in patients with Birt–Hogg–Dubé syndrome

Birt–Hogg–Dubé syndrome (BHDS) is an autosomal dominant inherited disorder caused by germline mutations in the FLCN gene, and characterized by skin fibrofolliculomas, multiple lung cysts, spontaneous pneumothorax, and renal neoplasms. Pulmonary manifestations frequently develop earlier than other or...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Physiol Rep
Main Authors: Hoshika, Yoshito, Takahashi, Fumiyuki, Togo, Shinsaku, Hashimoto, Muneaki, Nara, Takeshi, Kobayashi, Toshiyuki, Nurwidya, Fariz, Kataoka, Hideyuki, Kurihara, Masatoshi, Kobayashi, Etsuko, Ebana, Hiroki, Kikkawa, Mika, Ando, Katsutoshi, Nishino, Koichi, Hino, Okio, Takahashi, Kazuhisa, Seyama, Kuniaki
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Original Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5112502/
https://ncbi.nlm.nih.gov/pubmed/27905298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14814/phy2.13025
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados