Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Analysis of NF1 gene mutations in two sporadic patients with neurofibromatosis type 1].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2018

Zhao Xiaoyan, Zhou Qian, Cai Liangqi, Zhao Zijun, Zhang Linglin, Wang Peiru, Zhang Guolong

Abstract excerpt

OBJECTIVE: To detect mutations of the NF1 gene in two sporadic cases with neurofibromatosis type 1 (NF1) and explore their molecular mechanisms. METHODS: Clinical data of the two patients was collected. Genomic DNA was extracted from peripheral blood samples. Specific primers were designed to exclude pseudogenes. PCR was performed to amplify all coding exons of the NF1 gene. PCR products were directly sequenced....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Mutational Analysis
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Neurofibromatosis 1

Share to Mutation

Share to Neurofibromatosis 1

Share to Neurofibromin 1

Source

Identifiers

PMID: 30098240
DOI: 10.3760/cma.j.issn.1003-9406.2018.04.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of NF1 gene mutations in two sporadic patients with neurofibromatosis type 1].PMID 30098240Read ↗

[Analysis of NF1 gene mutations among eleven sporadic patients with neurofibromatosis type 1].Semantic proximity Read ↗

[Analysis of NF1 gene variants among thirteen patients with neurofibromatosis type 1].Semantic proximity Read ↗

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

Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].Semantic proximity Read ↗

[Analysis of genetic variant in a case of sporadic neurofibromatosis type I with alopecia areata and vitiligo].Semantic proximity Read ↗

[Analysis of genetic variant in a Chinese pedigree affected with neurofibromatosis type I].Semantic proximity Read ↗

[Molecular genetics of neurofibromatosis type 1].Semantic proximity Read ↗

[Genetics of type 1 neurofibromatosis].Semantic proximity Read ↗

[Molecular diagnosis as a strategy for differential diagnosis and at early ages of neurofibromatosis type 1 (NF1)].Semantic proximity Read ↗

Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1.Semantic proximity Read ↗

Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.Semantic proximity Read ↗

The genetic spectrum of NF1 variants in 10 unrelated Chinese families with neurofibromatosis type 1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.