The complexity of titin splicing pattern in human adult skeletal muscles

Abstract Background Mutations in the titin gene (TTN) cause a large spectrum of diseases affecting skeletal and/or cardiac muscle. TTN includes 363 coding exons, a repeated region with a high degree of complexity, isoform-specific elements, and metatranscript-only exons thought to be expressed only...

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Bibliographic Details

Published in:	Skeletal Muscle
Main Authors:	Marco Savarese, Per Harald Jonson, Sanna Huovinen, Lars Paulin, Petri Auvinen, Bjarne Udd, Peter Hackman
Format:	Article
Language:	English
Published:	BMC 2018-03-01
Subjects:	Titin Titinopathies RNA-sequencing Exon usage Alternative splicing events Splicing pattern
Online Access:	http://link.springer.com/article/10.1186/s13395-018-0156-z