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Article

Screening for mutation site on the type I neurofibromatosis gene in a family.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 May 2012

Lv Ming, Zhao Wenhua, Yan Lin, Chen Liang, Cui Kai, Gao Jie, Yu Fachang, Li Sheng

Abstract excerpt

PURPOSE: The purpose of the study was to determine the sites and types of mutations associated with type I neurofibromatosis (NF1) in the NF1 gene in a family with NF1 patients. METHODS: The blood samples obtained from this family (four patients and one normal healthy individual) were analyzed by performing polymerase chain reaction (PCR) and DNA sequencing for mutation screening. RESULTS: We found synonymous...

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Identifiers

PMID: 22207399
DOI: 10.1007/s00381-011-1653-0
PMCID: PMC3324681

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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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