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Whole-exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family
Although the main causative genes for hereditary multiple exostoses (HME) are exostosin (EXT)-1 and EXT-2, there are numerous patients with HME without EXT-1 and EXT-2 mutations. The present study aimed to identify novel candidate genes for the development of HME in patients without EXT-1 and EXT-2...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7411400/ https://www.ncbi.nlm.nih.gov/pubmed/32705272 http://dx.doi.org/10.3892/mmr.2020.11298 |