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

Kidney & blood pressure research - 1 Jan 2023

Lu Yi-Ting, Rejiepu Buweimairemu, Zhang Di, Cai Dong-Cheng, Yang Kun-Qi, Tian Tao, Zhou Xian-Liang, Fan Peng

Abstract excerpt

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 this study was to identify the pathogenicity of splicing mutation in a Chinese family with NF-1 and determine the...

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PMID: 37562365
DOI: 10.1159/000533144
PMCID: PMC10614435

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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