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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Dades bibliogràfiques
Publicat a:Genet Mol Biol
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Sociedade Brasileira de Genética 2021
Matèries:
Human and Medical Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8156126/
https://ncbi.nlm.nih.gov/pubmed/34042151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2020-0334
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