Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas | PLOS ONE
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The role of EXT1 gene mutation and its high expression of calcitonin gene-related peptide in the development of multiple exostosis - ScienceDirect
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Structural basis for heparan sulfate co-polymerase action by the EXT1–2 complex | Nature Chemical Biology
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Identification of a novel mutation in the EXT1 gene from a patient with multiple osteochondromas by exome sequencing
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A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG | Scientific Reports
![Mutation spectrum of the EXT1 and EXT2 genes in MO patients described... | Download Scientific Diagram Mutation spectrum of the EXT1 and EXT2 genes in MO patients described... | Download Scientific Diagram](https://www.researchgate.net/publication/42108536/figure/fig1/AS:216378582802432@1428600082652/Mutation-spectrum-of-the-EXT1-and-EXT2-genes-in-MO-patients-described-so-far-106.png)
Mutation spectrum of the EXT1 and EXT2 genes in MO patients described... | Download Scientific Diagram
![JCI - The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins JCI - The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins](https://dm5migu4zj3pb.cloudfront.net/manuscripts/13000/13737/medium/JCI0113737.f1.jpg)
JCI - The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins
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Medicina | Free Full-Text | Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family
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Frontiers | EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis
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Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis of <em>EXT1</em> and <em>EXT2</em> genes
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