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High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population
Circulation: Cardiovascular Genetics, 07/28/09
Lin HY et al. – The authors found an unexpected high prevalence of the cardiac variant Fabry mutation IVS 4+919 G–>A among both newborns (~1 in 1,600 males) and idiopathic HCM patients in the Taiwan Chinese population. The early identification of undiagnosed patients allows timely therapeutic intervention providing a better clinical outcome.
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