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

A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis.

British journal of cancer - 20 Jul 2001

Xiao C Y, Wang J, Zhang S Z, Van Hul W, Wuyts W, Qiu W M, Wu H, Zhang G

Abstract excerpt

Hereditary multiple exostoses (EXT) is an autosomal dominant disease characterized by the formation of cartilage-capped prominences (exostoses) that develop from the juxta-epiphyseal regions of the long bones. 3 genes are known to be involved in the formation of exostoses. Among them, EXT1 and EXT2, which encode enzymes that catalyse the biosynthesis of heparan sulfate, an important component of the extracellular...

Read the complete abstract on PubMed

Topics

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

Share to DNA Primers
Share to Exostoses, Multiple Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exostosin 2

Share to Gene Deletion

Share to Genetic Linkage

Share to N-Acetylglucosaminyltransferases

Share to Polymorphism, Single-Stranded Conformational

Share to Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 11461073
DOI: 10.1054/bjoc.2001.1880
PMCID: PMC2364055

Genes

EXT2
EXT1

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

A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis.PMID 11461073Read ↗

A novel mutation in EXT2 gene in a Chinese family with hereditary multiple exostoses.Semantic proximity Read ↗

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

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

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

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

A novel mutation in the EXT2 gene identified in two unrelated Chinese families with hereditary multiple exostoses.Semantic proximity Read ↗

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.Semantic proximity Read ↗

Three novel EXT1 and EXT2 gene mutations in Taiwanese patients 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 ↗

Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.Semantic proximity Read ↗

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

Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosisSemantic proximity Read ↗

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