Fibrinogen BOE II: Intracerebral hemorrhage associated with a novel compound mutation in a Chinese family with dysfibrinogenemia.
- Resource Type
- Article
- Authors
- Wang, Xiaoyu; Li, Yang; Luo, Zhongqiu; Hu, Yan; Wang, Rong; Wang, Ping; Ma, Jinjun; Zhang, Jiali; Feng, Xue; Wang, Jianming
- Source
- Thrombosis Research. Dec2020, Vol. 196, p63-66. 4p.
- Subject
- *CEREBRAL hemorrhage
*FIBRINOGEN
*MISSENSE mutation
*PATIENTS' families
*FAMILIES
- Language
- ISSN
- 0049-3848
• We found a rare case of congenital dysfibrinogenemia associated with two compound missense mutations c.172G>A (p. Glu58Lys) and c.991A>G (p. Thr331Ala) that we called Fibrinogen BOE II located in FGA which were detected in the patients and his family numbers. • The combination of cerebral hemorrhage in the setting of congenital dysfibrinogenemia and a homozygous or compound heterozygous missense mutation was rare. • A novel mutation of FGA c.172G>A (p. Glu58Lys) is the first report on a pedigree with congenital dysfibrinogenemia. [ABSTRACT FROM AUTHOR]