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

[Denaturant gradient gel electrophoresis in the genetic diagnosis of hereditary multiple exostoses].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 1 Apr 2007

He Hong-Bo, Hu Zheng-Mao, Li He-Jun, Zhu Yong, Shi Xiao-Liu, Lei Guang-Hua, Zhou Jiang-Nan, Li Kang-Hua

Abstract excerpt

OBJECTIVE: To detect the mutations of EXT2 gene in hereditary multiple exostoses (HME) families and to investigate the sensitivity of denaturant gradient gel electrophoresis (DGGE) in screening the mutations in EXT2 gene. METHODS: Five HME families and 3 sporadic patients were screened for the mutation detection in all exons of EXT2 gene covering the coding sequence and the flanking intronic sequence by DGGE, and...

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 Electrophoresis, Polyacrylamide Gel

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Exostoses, Multiple Hereditary

Share to Exostosin 1

Share to Exostosin 2

Share to Genes, Tumor Suppressor

Share to N-Acetylglucosaminyltransferases

Source

Identifiers

PMID: 17478946

Genes

EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Denaturant gradient gel electrophoresis in the genetic diagnosis of hereditary multiple exostoses].PMID 17478946Read ↗

[EXT1 and EXT2 mutation identified by denaturing high performance liquid chromatograph in three families with hereditary multiple exostoses].Semantic proximity Read ↗

A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.Semantic proximity Read ↗

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

[A mutation 1633-26(C-->A) in EXT1 gene causes multiple exostoses].Semantic proximity Read ↗

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

[A new EXT2 mutation in a Chinese family with hereditary multiple exostoses].Semantic proximity Read ↗

[Identification of mutations in the human EXT1 and EXT2 genes].Semantic proximity Read ↗

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

A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfateSemantic proximity Read ↗

[A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses].Semantic proximity Read ↗

[Novel mutation of Y271H in EXT1 gene causes 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 ↗

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