Literature DB >> 24048908

Mutation analysis of a large cohort of GNE myopathy reveals a diverse array of GNE mutations affecting sialic acid biosynthesis.

Kinji Ohno.   

Abstract

Entities:  

Keywords:  Muscle Disease; Myopathy

Mesh：

Substances：

Year:  2013        PMID： 24048908     DOI： 10.1136/jnnp-2013-306414

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  2 in total

1.  Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report.

Authors:  Young-Ah Choi; Sung-Hye Park; Youbin Yi; Keewon Kim
Journal:  Ann Rehabil Med       Date:  2015-06-30

2.  Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.

Authors:  Yuan Wu; Lamei Yuan; Yi Guo; Anjie Lu; Wen Zheng; Hongbo Xu; Yan Yang; Pengzhi Hu; Shaojuan Gu; Bingqi Wang; Hao Deng
Journal:  J Cell Mol Med       Date:  2018-08-29       Impact factor: 5.310
  2 in total

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