Identification of a two-domain antifreeze protein gene in Antarctic eelpoutLycodichthys dearborni

Protein C deficiency: Identification of

Protein C deficiency: Identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families

✍ José Manuel Soria; Jordi Fontcuberta; Montserrat Borrell; Xavier Estivill; Núria 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 337 KB

We have applied single-strand conformation polymorphism (SSCP) to the analysis of exon 7 of the anticoagulant protein C (PC) gene, in 13 PC-deficient Spanish families. Abnormal patterns were visualized in three samples from type I or quantitative PC deficient proposita. A previously undescribed muta