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

The R1947X mutation of NF1 causing autosomal dominant neurofibromatosis type 1 in a Chinese family.

Journal of genetics and genomics = Yi chuan xue bao - 1 Feb 2008

Yang Qinbo, Huang Changzheng, Yang Xiaoying, Feng Yinfu, Wang Qing, Liu Mugen

Abstract excerpt

Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance. It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin. The main function of neurofibromin is down-regulating the biological activity of the proto-oncoprotein Ras by acting as a Ras-specific GTPase activating protein. In this study, we identified a Chinese family affected with...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genes, Dominant

Share to Genes, Neurofibromatosis 1

Share to Genetic Linkage

Share to Neurofibromatosis 1

Share to Pedigree

Source

Identifiers

PMID: 18407053
DOI: 10.1016/S1673-8527(08)60011-9

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

The R1947X mutation of NF1 causing autosomal dominant neurofibromatosis type 1 in a Chinese family.PMID 18407053Read ↗

Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.Semantic proximity Read ↗

Identification of a Novel NF1 Frameshift Variant in a Chinese Family with Neurofibromatosis Type 1.Semantic proximity Read ↗

Two novel mutations of NF1 gene identified in Chinese patients with severe neurofibromatosis type 1.Semantic proximity Read ↗

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

Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategiesSemantic proximity Read ↗

A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor.Semantic proximity Read ↗

A Comprehensive Overview of NF1 Mutations in Iranian Patients.Semantic proximity Read ↗

A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family.Semantic proximity Read ↗

Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families 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 ↗

A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study.Semantic proximity Read ↗

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

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