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Article

Determination of SMN1 and SMN2 copy number using TaqMan™ technology

4 Jun 2003

Abstract excerpt

Infantile spinal muscular atrophy (SMA) is a neuromuscular disease caused by homozygous deletion of the SMN1 gene in more than 90% of patients. Identification of carriers for the SMN1 deletion is important for diagnostic purposes and for genetic counseling. The current practical implications of SMN2 copy number determination are limited but may be important, for example, for future drug trials. Here we present a...

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PMID: 12815596
DOI: 10.1002/humu.10221

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