Factor XI deficiency in Southern Iran: identification of a novel missense mutation
β Scribed by Mehran Karimi; Hamta Jafari; Saba Lahsaeizadeh; Abdolreza Afrasiabi; Ahmad Akbari; Javad Dehbozorgian; Rezvan Ardeshiri; Ilaria Guella; Rosanna Asselta; Flora Peyvandi
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 103 KB
- Volume
- 88
- Category
- Article
- ISSN
- 0939-5555
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
We have identified a novel mutation leading to a congenital deficiency of the coagulation factor XI (FXI) in a Japanese family. A propositus was a 42-year-old female patient without bleeding tendency. Coagulant activity and the antigen level of FXI in her plasma were below the detectable range. The
Communicated by Garry R. Cutting In the search for mutations in the cystic fibrosis gene in patients from the Mediterranean area, we have analysed exons 4,9, 10, 19, and 21 by the single-strand conformation polymorphism (SSCP) technique in 50 patients with at least one non-AF508 chromosome. Ten sam