A Simple and Rapid Quantitative Method of Detection of the Common Achondroplasia Mutation: Analysis in Mismatch Repair Deficient Cells

Optimization of a simple and rapid singl

Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants

✍ Yolanda Espinosa-Parrilla; Marta Morell; Montserrat Borrell; Joan Carles Souto; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 448 KB 👁 2 views

Anticoagulant protein S (PS) deficiency is a known risk factor for thrombophilia. The structure and high allelic heterogeneity of the PS gene (PROS1), together with the presence of a 97% homologous pseudogene, complicates PROS1 analysis. We have optimized a simple, fast, and non-isotopic Single-Stra