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C0235 Identification of mutations in the protein C gene in a panel of 65 Spanish families with protein C deficiency

✍ Scribed by Martos, Laura; Navarro, Silvia; Medina, Pilar; Bonet, Elena; López-Fernández, María F.; Roldán, Vanessa; Tássies, Dolors; Marco, Pascual; Alberca, Ignacio; Corral, Javier; Mira, Yolanda; Lecumberri, Ramón; Iruin, Gemma; Velasco, Francisco; Reverter, Juan C.; Ferrando, Fernando; Costa-Pinto, María J.; Vayá, Amparo; Vicente, Vicente; Mauricio, Ana G.; González-Porras, José R.; Monteagudo, Juan; Martínez-Marini, Teresa; Blanco, María L.; Aznar, José A.; Estellés, Amparo; España, Francisco


Book ID
123208502
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
93 KB
Volume
130
Category
Article
ISSN
0049-3848

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Protein C deficiency: Identification of
✍ 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