A NOVEL 4 BASE PAIR DELETION MUTATION INDUCING TYPE I ANTITHROMBIN DEFICIENCY
โ Scribed by Tetsuo Ozawa; Kenji Niiya; Nanako Inoue; Nobuaki Kawahara; Mikiya Nakatsuka; Katsuhiko Tada; Takafumi Kudo; Nobuo Sakuragawa
- Book ID
- 117258678
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 452 KB
- Volume
- 85
- 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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