NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a disease characterized by arteriovenous malformations in the skin and mucous membranes. We enrolled a large pedigree comprising 32 living members, and screened for mutations responsible for HHT. METHODS: We performed whole-exome sequencing...

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Detalles Bibliográficos
Autores principales: Xu, Yu, Zhang, Yong-Biao, Liang, Li-Jun, Tian, Jia-Li, Lin, Jin-Ming, Wang, Pan-Pan, Li, Rong-Hui, Gu, Ming-Liang, Gao, Zhan-Cheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8191015/
https://www.ncbi.nlm.nih.gov/pubmed/34112136
http://dx.doi.org/10.1186/s12890-021-01524-4

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