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...

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Detalles Bibliográficos
Autores principales: Li, Yiqiang, Lin, Xuemei, Zhu, Mingwei, Li, Jingchun, Yuan, Zhe, Xu, Hongwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
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

Internet

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

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