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

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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Bibliographic Details
Main Authors: Yi-Ting Lu, Buweimairemu Rejiepu, Di Zhang, Dong-Cheng Cai, Kun-Qi Yang, Tao Tian, Xian-Liang Zhou, Peng Fan
Format: Article
Language:English
Published: Karger Publishers 2023-08-01
Series:Kidney & Blood Pressure Research
Subjects:
neurofibromatosis type 1
nf1
splicing mutation
minigene assay
exon skipping
Online Access:https://beta.karger.com/Article/FullText/533144

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