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Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

✍ Scribed by Markus Feldkötter; Verena Schwarzer; Radu Wirth; Thomas F. Wienker; Brunhilde Wirth


Book ID
117853799
Publisher
American Society of Human Genetics
Year
2002
Tongue
English
Weight
819 KB
Volume
70
Category
Article
ISSN
0002-9297

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Quantitative analysis of SMN1 and SMN2 g
✍ Yi-Ning Su; Chia-Cheng Hung; Hung Li; Chien-Nan Lee; Wen-Fang Cheng; Po-Nien Tsa 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 244 KB

## Communicated by Graham R. Taylor 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