0013323 2023 RIV CH eng J
Sovová, Žofie^G - Pečánková, Klára - Májek, Pavel - Suttnar, Jiří
Extension of the human fibrinogen database with detailed clinical information: the alpha c‐connector segment.
International journal of molecular sciences. Vol. 23, no. 1 (2022), art. no. 132. ISSN 1422-0067
Grant: Grantová agentura ČR GA20-10845S; Ministerstvo zdravotnictví NV18-08-00149
Institucionální podpora: RVO:00023736
Klíčová slova: afibrogenemia * dysfibrinogenemia * fibrinogen * human fibrinogen database * αC‐connector
Cite Score: 7.800, rok: 2022; SJR: 1.154, rok: 2022; IF: 5.6, rok: 2022
DOI: 10.3390/ijms23010132

Anotace: Fibrinogen, an abundant plasma glycoprotein, is involved in the final stage of blood coagulation. Decreased fibrinogen levels, which may be caused by mutations, are manifested mainly in bleeding and thrombotic disorders. Clinically relevant mutations of fibrinogen are listed in the Human Fibrinogen Database. For the αC‐connector (amino acids Aα240–410, nascent chain numbering), we have extended this database, with detailed descriptions of the clinical manifestations among members of reported families.