Identification of a novel frameshift mutation causing a premature stop codon in a young Nigerian man with type I antithrombin deficiency
β Scribed by Bulato, Cristiana; Tognin, Giulio; Spiezia, Luca; Fadin, Mariangela; Gavasso, Sabrina; Simioni, Paolo
- Book ID
- 122666378
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 306 KB
- Volume
- 131
- Category
- Article
- ISSN
- 0049-3848
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We describe a novel, de novo point mutation in one antithrombin (AT) allele resulting in type I AT deficiency and thrombophilia. Low plasma AT activity as well as low plasma AT antigen were documented in the propositus, but not in the parents, or in a male sibling. AT gene analysis by sequencing pol
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