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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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