An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish

An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish

Truncating mutations in the giant sarcomeric protein Titin result in dilated cardiomyopathy and skeletal myopathy. The most severely affected dilated cardiomyopathy patients harbor Titin truncations in the C-terminal two-thirds of the protein, suggesting that mutation position might influence diseas...

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Bibliographic Details
Main Authors: Jun Zou, Diana Tran, Mai Baalbaki, Ling Fung Tang, Annie Poon, Angelo Pelonero, Erron W Titus, Christiana Yuan, Chenxu Shi, Shruthi Patchava, Elizabeth Halper, Jasmine Garg, Irina Movsesyan, Chaoying Yin, Roland Wu, Lisa D Wilsbacher, Jiandong Liu, Ronald L Hager, Shaun R Coughlin, Martin Jinek, Clive R Pullinger, John P Kane, Daniel O Hart, Pui-Yan Kwok, Rahul C Deo
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2015-10-01
Series:eLife
Subjects:
genetic
cardiomyopathy
sarcomere
Online Access:https://elifesciences.org/articles/09406

Internet

https://elifesciences.org/articles/09406

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