𝔖 Bobbio Scriptorium
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C7 Deficiency and Meningococcal Infection Susceptibility in Two Spanish Families

✍ Scribed by S. Barroso; M. López-Trascasa; D. Merino; A. J. Álvarez; A. Núñez-Roldán; B. Sánchez

Book ID
110861918
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
163 KB
Volume
72
Category
Article
ISSN
0300-9475

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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