A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate

Hereditary multiple exostoses (HME) is a rare skeletal disorder characterized by the formation of multiple benign cartilage-capped tumors, usually in the metaphyseal region of the long bones. Over 70% of HME cases arise from monoallelic mutations in either of the two genes encoding the heparan sulfa...

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Detalles Bibliográficos
Autores principales: Xian, Caixia, Zhu, Mingwei, Nong, Tianying, Li, Yiqiang, Xie, Xingmei, Li, Xia, Li, Jiangui, Li, Jingchun, Wu, Jianping, Shi, Weizhe, Wei, Ping, Xu, Hongwen, Tang, Ya-ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2021
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8156126/
https://www.ncbi.nlm.nih.gov/pubmed/34042151
http://dx.doi.org/10.1590/1678-4685-GMB-2020-0334

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8156126/
https://www.ncbi.nlm.nih.gov/pubmed/34042151
http://dx.doi.org/10.1590/1678-4685-GMB-2020-0334

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