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Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restrictive Cardiomyopathy

BACKGROUND: Restrictive cardiomyopathy (RCM) is the least common cardiomyopathy in which the walls are rigid and the heart is restricted from stretching and filling properly. Cardiac troponin I (cTnI) mutation-caused myofibril Ca(2+) hypersensitivity has been shown to be associated with impaired dia...

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Detalles Bibliográficos
Autores principales: Ding, Wen-Hong, Han, Ling, Xiao, Yan-Yan, Mo, Ying, Yang, Jing, Wang, Xiao-Fang, Jin, Mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5717861/
https://www.ncbi.nlm.nih.gov/pubmed/29176140
http://dx.doi.org/10.4103/0366-6999.219150