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Article

A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report.

The Journal of bone and joint surgery. American volume - 6 Jun 2012

Delgado María Andrea, Sarrión Patricia, Azar Nydia, Zecchini Lorena, Robledo Hector Hugo, Segura Florencio, Balcells Susana, Grinberg Daniel, Dodelson de Kremer Raquel, Asteggiano Carla Gabriela

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22637216
DOI: 10.2106/JBJS.J.01920

Genes

EXT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report.PMID 22637216Read ↗

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

Mutant EXT1 in Taiwanese Patients with Multiple Hereditary ExostosesSemantic proximity Read ↗

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

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.Semantic proximity Read ↗

[Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses].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 ↗

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

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

[Hereditary multiple exostoses. Molecular genetic analysis of the EXT1 gene in an unusual family].Semantic proximity Read ↗

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.Semantic proximity Read ↗

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

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