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A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency

✍ Scribed by T. Horiuchi; Joana M. Ferrer; P. Serra; Núria Matamoros; Margarita López-Trascasa; Chinami Hashimura; Yoshiyuki Niho


Book ID
106252523
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
100 KB
Volume
44
Category
Article
ISSN
1435-232X

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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