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Novel germline mutations in FLCN gene identified in two Chinese patients with Birt–Hogg–Dubé syndrome

Birt–Hogg–Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC). Few BHD syndrome cases have been reported in Asian co...

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Dades bibliogràfiques
Publicat a:Chin J Cancer
Autors principals: Li, Teng, Ning, Xianghui, He, Qun, Gong, Kan
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5220607/
https://ncbi.nlm.nih.gov/pubmed/28069055
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40880-016-0172-5
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