The High Level of Aberrant Splicing of ISCU in Slow-Twitch Muscle May Involve the Splicing Factor SRSF3.
Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive disease caused by an intronic one-base mutation in the iron-sulfur cluster assembly (ISCU) gene, resulting in aberrant splicing. The incorrectly spliced transcripts contain a 100 or 86 bp intron sequence encoding a non-function...
Main Authors: | Denise F R Rawcliffe, Lennart Österman, Hans Lindsten, Monica Holmberg |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2016-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC5081167?pdf=render |
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