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

Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

Human mutation - 1 Aug 2006

Lee Ming-Jen, Su Yi-Ning, You Huey-Ling, Chiou Shinn-Chong, Lin Li-Chu, Yang Chih-Chao, Lee Wang-Chao, Hwu Wu-Liang, Hsieh Fon-Jou, Stephenson Dennis A, Yu Chia-Li

Abstract excerpt

Neurofibromatosis type 1 (NF1), characterized by skin neurofibromas and an excess of café-au-lait spots, is due to mutations in the neurofibromin (NF1) gene. Identifying the genetic defect in individuals with the disease represents a significant challenge because the gene is extremely large with a high incidence of sporadic mutations across the entire gene ranging from single nucleotide substitutes to large...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Dosage

Share to Genes, Neurofibromatosis 1

Share to Heteroduplex Analysis

Share to Loss of Heterozygosity

Share to Neurofibromatosis 1

Share to RNA Splice Sites

Source

Identifiers

PMID: 16835897
DOI: 10.1002/humu.9446

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.PMID 16835897Read ↗

Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1.Semantic proximity Read ↗

NF1 mutation analysis using a combined heteroduplex/SSCP approach.Semantic proximity Read ↗

Novel mutations involving the NF1 gene coding sequence in neurofibromatosis type 1 patients from Taiwan.Semantic proximity Read ↗

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

Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.Semantic proximity Read ↗

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defectsSemantic proximity Read ↗

Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China.Semantic proximity Read ↗

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.Semantic proximity Read ↗

Identification of two novel mutations in the NF1 gene in Chinese patients with neurofibromatosis type 1.Semantic proximity Read ↗

Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.Semantic proximity Read ↗

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

The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.Semantic proximity Read ↗

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