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Article

[Identification of a mosaic mutation of NF1 gene in a sporadic case of neurofibromatosis type 1].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2012

Zhou Chun-yan, Li Jun, Guo Xiao-yan, Liao Juan, Wang Zhi-hong, Lan Feng-hua

Abstract excerpt

OBJECTIVE: To detect NF1 gene mutation in a patient with neurofibromatosis type 1. METHODS: Five fragments encompassing the entire coding sequence of the NF1 gene were amplified with reverse transcription PCR. PCR products were directly sequenced. Suspected mutations were verified by sequencing of DNA amplified by PCR using genomic DNA as template. Corresponding exon of family members was also sequenced....

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Identifiers

PMID: 23042387
DOI: 10.3760/cma.j.issn.1003-9406.2012.05.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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