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

[Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2003

Zhu Bin, Dong Qiu-ming, Huang Xing-hua, Ji Guo-qing, Chen Ying, Wang Wen-xing, Jiang Hai-yan, Gao Jin-sheng

Abstract excerpt

OBJECTIVE: To clarify the patients' pathogenic mechanism in an achondroplasia family not according with the genetic law of autosomal dominant inheritance disease at gene level. METHODS: Genomic DNA from peripheral blood of all members in this family was used for amplification of the exon 10 of fibroblast growth factor receptor 3(FGFR3) gene by PCR; mutation was detected by DNA sequencing and identified by...

Read the complete abstract on PubMed

Topics

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

Share to Achondroplasia
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Family Health

Share to Pedigree

Share to Protein-Tyrosine Kinases

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Receptors, Fibroblast Growth Factor

Source

Identifiers

PMID: 14556186

Genes

FGFR3

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

[Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family].PMID 14556186Read ↗

[Mutations of the fibroblast growth factor receptor 3 gene in achondroplasia].Semantic proximity Read ↗

[Achondroplasia: molecular study of 28 patients].Semantic proximity Read ↗

Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia.Semantic proximity Read ↗

[Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)].Semantic proximity Read ↗

Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia.Semantic proximity Read ↗

[Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis].Semantic proximity Read ↗

[Rapid genetic prenatal diagnosis for achondroplasia].Semantic proximity Read ↗

Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.Semantic proximity Read ↗

FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients.Semantic proximity Read ↗

[Fibroblast growth factor receptor and achondroplasia].Semantic proximity Read ↗

[From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor].Semantic proximity Read ↗

[Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population].Semantic proximity Read ↗

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