A Splice Mutation and mRNA Decay of EXT2 Provoke Hereditary Multiple Exostoses

BACKGROUND: Hereditary multiple exostoses (HME) is an autosomal dominant disease. The classical paradigm of mutation screening seeks to relate alterations in the exostosin glycosyltransferase genes, EXT1 and EXT2, which are responsible for over 70% of HME cases. However, the pathological significanc...

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Detalles Bibliográficos
Autores principales: Tian, Chen, Yan, Rengna, Wen, Shuzhen, Li, Xueling, Li, Tianfeng, Cai, Zhenming, Li, Xinxiu, Du, Hong, Chen, Huimei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984245/
https://www.ncbi.nlm.nih.gov/pubmed/24728384
http://dx.doi.org/10.1371/journal.pone.0094848

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984245/
https://www.ncbi.nlm.nih.gov/pubmed/24728384
http://dx.doi.org/10.1371/journal.pone.0094848

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