A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.

A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.

<h4>Background</h4>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 patho...

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Autores principales: Chen Tian, Rengna Yan, Shuzhen Wen, Xueling Li, Tianfeng Li, Zhenming Cai, Xinxiu Li, Hong Du, Huimei Chen
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2014
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/78999814f7aa4fbc8a78cc615233e3e5
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