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C5 complement deficiency in a Spanish family: Molecular characterization of the double mutation responsible for the defect

✍ Scribed by Eva Delgado-Cerviño; Gumersindo Fontán; Margarita López-Trascasa


Book ID
116755416
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
226 KB
Volume
42
Category
Article
ISSN
0161-5890

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✍ 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