Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)

BACKGROUND: In Taiwan, DNA-based newborn screening showed a surprisingly high incidence of a cardiac Fabry mutation (IVS4 + 919G > A). The prevalence of this mutation is too high to be believed that it is a real pathogenic mutation. The purpose of this study is to identify the cardiac pathologic...

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Detalles Bibliográficos
Autores principales: Hsu, Ting-Rong, Sung, Shih-Hsien, Chang, Fu-Pang, Yang, Chia-Feng, Liu, Hao-Chuan, Lin, Hsiang-Yu, Huang, Chun-Kai, Gao, He-Jin, Huang, Yu-Hsiu, Liao, Hsuan-Chieh, Lee, Pi-Chang, Yang, An-Hang, Chiang, Chuan-Chi, Lin, Ching-Yuang, Yu, Wen-Chung, Niu, Dau-Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4100491/
https://www.ncbi.nlm.nih.gov/pubmed/24980630
http://dx.doi.org/10.1186/1750-1172-9-96

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