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- Jong, Yuh-Jyh, et al. Show all 5 Authors
- Analytical and bioanalytical chemistry 2010 v.397 no.6 pp. 2375-2383
- capillary electrophoresis; exons; fluorescence; gene conversion; gene deletion; genes; genotyping; muscular atrophy; patients; polymerase chain reaction
- ... We have developed a capillary electrophoresis (CE) method with universal fluorescent multiplex PCR to simultaneously detect the SMN1 and SMN2 genes in exons 7 and 8. Spinal muscular atrophy (SMA) is a very frequent inherited disease caused by the absence of the SMN1 gene in approximately 94% of patients. Those patients have deletion of the SMN1 gene or gene conversion between SMN1 and SMN2. Howeve ...