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...

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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5112502/
https://www.ncbi.nlm.nih.gov/pubmed/27905298
http://dx.doi.org/10.14814/phy2.13025

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