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

Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses

29 May 2014

Abstract excerpt

BACKGROUND: . METHODS: , including intron/exon boundaries, sequenced via DNA samples drawn from participants. RESULTS: gene in both cases, within which frame-shift mutation c.447delC (p.Ser149fsX156) in exon1 and nonsense mutation c.2034T>G (p.Tyr678X) in exon10, emerged. Neither mutation was detected in control group. CONCLUSIONS: in Taiwanese MHE patients.

Read the complete abstract on PubMed

Topics

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

Share to Bone Tumor Diagnosis and Treatments
Share to dental development and anomalies
Share to Oral and Maxillofacial Pathology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25520924
DOI: 10.7603/s40681-014-0011-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutant EXT1 in Taiwanese Patients with Multiple Hereditary ExostosesPMID 25520924Read ↗

Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.Semantic proximity Read ↗

A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses.Semantic proximity Read ↗

Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.Semantic proximity Read ↗

A novel mutation of EXT2 gene in a Chinese family with hereditary multiple exostosisSemantic proximity Read ↗

A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas.Semantic proximity Read ↗

A novel mutation in the EXT1 gene identified in a Han Chinese kindred with hereditary multiple exostosis.Semantic proximity Read ↗

Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.Semantic proximity Read ↗

Identification of a Novel EXT Mutation in A Kindred With Hereditary Multiple Exostoses Using Whole-Exome Sequencing and Overview of Mutation SpectrumSemantic proximity Read ↗

Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses.Semantic proximity Read ↗

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.Semantic proximity Read ↗

Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.Semantic proximity Read ↗

Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation.Semantic proximity Read ↗

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