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Quantitative analysis of<i>SMN1</i>and<i>SMN2</i>genes based on DHPLC: A highly efficient and reliable carrier-screening test

14 Apr 2005

Abstract excerpt

Autosomal recessive spinal muscular atrophy (SMA) is a common, fatal neuromuscular disease caused by homozygous absence of the SMN1 gene in approximately 94% of patients. However, a highly homologous SMN2 gene exists in the same chromosome interval, centromeric to SMN1, and hampers detection of SMN1. We present a new, rapid, simple, and highly reliable method for detecting the SMN1 deletion/conversion and for...

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PMID: 15832310
DOI: 10.1002/humu.20160

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Quantitative analysis of<i>SMN1</i>and<i>SMN2</i>genes based on DHPLC: A highly efficient and reliable carrier-screening testPMID 15832310Read ↗

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