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Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)

This is a descriptive analysis of a cohort of 59 Taiwanese patients with Fabry disease and either classical Fabry or cardiac variant IVS4+919G>A (IVS4) mutations from a disease registry, the Fabry Outcome Survey (FOS; sponsored by Shire). Most of our classical Fabry patients were symptomatic and...

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Bibliografske podrobnosti
izdano v:JIMD Rep
Main Authors: Liu, Hao-Chuan, Perrin, Amandine, Hsu, Ting-Rong, Yang, Chia-Feng, Lin, Hsiang-Yu, Yu, Wen-Chung, Niu, Dau-Ming
Format: Artigo
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2015
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4486271/
https://ncbi.nlm.nih.gov/pubmed/25762495
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_418
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