The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots.


BACKGROUND As an X-linked genetic disorder, Fabry disease was first thought to affect males only, and females were generally considered to be asymptomatic carriers. However, recent research suggests that female carriers of Fabry disease may still develop vital organ damage causing severe morbidity and mortality. In the previous newborn screening, from 299… (More)
DOI: 10.1016/j.cca.2011.10.023


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