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...

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Detalles Bibliográficos
Autores principales: Rawcliffe, Denise F. R., Österman, Lennart, Lindsten, Hans, Holmberg, Monica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081167/
https://www.ncbi.nlm.nih.gov/pubmed/27783661
http://dx.doi.org/10.1371/journal.pone.0165453

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081167/
https://www.ncbi.nlm.nih.gov/pubmed/27783661
http://dx.doi.org/10.1371/journal.pone.0165453

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