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 (...

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Detalles Bibliográficos
Autores principales: Guo, Xiaoyan, Lin, Mingrui, Yan, Wei, Chen, Wenxu, Hong, Guolin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2019
Materias:
Articles
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

Internet

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

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