A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies

A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies

Titin (TTN) is known as the largest sarcomeric protein that resides within the heart muscle. Due to alternative splicing of TTN the heart expresses two major isoforms (N2B and N2BA) that incorporate four distinct regions termed the Z-line, I-band, A-band, and M-line. Next-generation sequencing allow...

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Bibliographic Details
Main Authors: Marta Gigli, Rene Begay, Gaetano Morea, Sharon Graw, Gianfranco Sinagra, Matthew Taylor, Henk Granzier, Luisa Mestroni
Format: Article
Language:English
Published: Frontiers Media S.A. 2016-07-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
Heart Failure
Cardiovascular genetics
Clinical genetics
Titin
clinical diagnosis
TTN
Online Access:http://journal.frontiersin.org/Journal/10.3389/fcvm.2016.00021/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fcvm.2016.00021/full

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