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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Detalles Bibliográficos
Autores principales: Zou, Jun, Tran, Diana, Baalbaki, Mai, Tang, Ling Fung, Poon, Annie, Pelonero, Angelo, Titus, Erron W, Yuan, Christiana, Shi, Chenxu, Patchava, Shruthi, Halper, Elizabeth, Garg, Jasmine, Movsesyan, Irina, Yin, Chaoying, Wu, Roland, Wilsbacher, Lisa D, Liu, Jiandong, Hager, Ronald L, Coughlin, Shaun R, Jinek, Martin, Pullinger, Clive R, Kane, John P, Hart, Daniel O, Kwok, Pui-Yan, Deo, Rahul C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2015
Materias:
Human Biology and Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4720518/
https://www.ncbi.nlm.nih.gov/pubmed/26473617
http://dx.doi.org/10.7554/eLife.09406

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4720518/
https://www.ncbi.nlm.nih.gov/pubmed/26473617
http://dx.doi.org/10.7554/eLife.09406

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