Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation

INTRODUCTION: Neurofibromatosis type 1 (NF-1) is caused by mutations in the NF1 gene that encodes neurofibromin, a negative regulator of RAS proto-oncogene. Approximately one-third of the reported pathogenic mutations in NF1 are splicing mutations, but most consequences are unclear. The objective of...

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Detalles Bibliográficos
Autores principales: Lu, Yi-Ting, Rejiepu, Buweimairemu, Zhang, Di, Cai, Dong-Cheng, Yang, Kun-Qi, Tian, Tao, Zhou, Xian-Liang, Fan, Peng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10614435/
https://www.ncbi.nlm.nih.gov/pubmed/37562365
http://dx.doi.org/10.1159/000533144

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