期刊
CELL RESEARCH
卷 22, 期 10, 页码 1413-1415出版社
INST BIOCHEMISTRY & CELL BIOLOGY
DOI: 10.1038/cr.2012.93
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- ICREA Funding Source: Custom
Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder often considered to be the third most common muscular dystrophy. Deletions reducing the copy number of the D4Z4 repeat in the distal end of the 4q arm are the main genetic cause of the disease. The recently highlighted research has identified a transcriptional activatory long non-coding RNA involved in the disease that acts through the recruitment of ASH1L, a protein belonging to the Trithorax family.
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