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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Bibliographic Details
Main Authors: Chen Tian, Rengna Yan, Shuzhen Wen, Xueling Li, Tianfeng Li, Zhenming Cai, Xinxiu Li, Hong Du, Huimei Chen
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24728384/?tool=EBI

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24728384/?tool=EBI

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