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SMA carrier testing: a meta‐analysis of differences in test performance by ethnic group

24 Jul 2014

Abstract excerpt

INTRODUCTION: Spinal muscular atrophy (SMA) is a severe autosomal recessive genetic disease that occurs in about one in every 10 000 births. Prenatal carrier testing is available for SMA, and the utility of universal screening is actively debated. OBJECTIVE: The aim of this study was to perform a systematic review and meta-analysis of SMA genotype frequency, carrier frequency, and carrier test performance in...

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PMID: 25059567
DOI: 10.1002/pd.4459

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