CHST15 gene germline mutation is associated with the development of familial myeloproliferative neoplasms and higher transformation risk

Herein, we describe the clinical and hematological features of three genetically related families predisposed to myeloproliferative neoplasms (MPNs). Using whole-exome sequencing, we identified a c.1367delG mutation(p.Arg456fs) in CHST15 (NM_001270764), a gene encoding a type II transmembraneglycopr...

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Detalles Bibliográficos
Autores principales: Chen, Yi, Zhang, Yang, Wang, Zhihua, Wang, Yewei, Luo, Yujiao, Sun, Nannan, Zheng, Shasha, Yan, Wenzhe, Xiao, Xiang, Liu, Sufang, Li, Ji, Peng, Hongling, Xu, Yunxiao, Hu, Guoyu, Cheng, Zhao, Zhang, Guangsen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9263130/
https://www.ncbi.nlm.nih.gov/pubmed/35798703
http://dx.doi.org/10.1038/s41419-022-05035-w

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