Article
Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rate.
Genetic testing and molecular biomarkers - 1 Jun 2010
Sukenik-Halevy Rivka, Pesso Rachel, Garbian Noa, Magal Nurit, Shohat Mordechai
Abstract excerpt
The carrier frequency of spinal muscular atrophy varies from 1:168 to 1:35. We analyzed the carrier rate in a large population in Israel, evaluated the false-negative rate based on the number of alleles with duplication of exon 7, and analyzed the ethnic differences in both parameters. Data were collected from two centers that conduct carrier screening using the multiplex ligation-dependent probe amplification...
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