Exons 1–3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome

BACKGROUND: The pathogenic variants responsible for Birt-Hogg-Dubé syndrome (BHDS) in folliculin (FLCN) gene mostly consist of point mutations. Although large intragenic deletions/duplications have been reported in several case reports, the relationship between large intragenic deletions/duplication...

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Detalles Bibliográficos
Autores principales: Wang, Yue, Cai, Mengru, Jiang, Xianliang, Lv, Guangyu, Hu, Daiju, Zhang, Guofeng, Liu, Jinli, Wei, Wei, Xiao, Jun, Shen, Bing, Ryu, Jay H., Hu, Xiaowen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10176890/
https://www.ncbi.nlm.nih.gov/pubmed/37170274
http://dx.doi.org/10.1186/s13023-023-02710-9

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