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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Wang, Jian, Guo, Ying, Huang, Meirong, Zhang, Zhen, Zhu, Junxue, Liu, Tingliang, Shi, Lin, Li, Fen, Huang, Huimin, Fu, Lijun
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5301434/
https://ncbi.nlm.nih.gov/pubmed/28183324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0562-4
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