Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort

BACKGROUND: Barth syndrome (BTHS) is a rare X-linked recessive disease characterized by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. Early diagnosis and appropriate treatment may improve the prognosis of this disease. The purpose of this study is to determine the role of targeted...

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Detalles Bibliográficos
Autores principales: Wang, Jian, Guo, Ying, Huang, Meirong, Zhang, Zhen, Zhu, Junxue, Liu, Tingliang, Shi, Lin, Li, Fen, Huang, Huimin, Fu, Lijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5301434/
https://www.ncbi.nlm.nih.gov/pubmed/28183324
http://dx.doi.org/10.1186/s13023-016-0562-4

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