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A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses
The molecular mechanism of hereditary multiple exostoses (HME) remains ambiguous and a limited number of studies have investigated the pathogenic mechanism of mutations in patients with HME. In the present study, a novel heterozygous splice mutation (c.1284+2del) in exostosin glycosyltransferase 1 (...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365038/ https://www.ncbi.nlm.nih.gov/pubmed/30664192 http://dx.doi.org/10.3892/ijo.2019.4688 |