Clinical features and genetic defect in six index patients with congenital fibrinogen disorders: Three novel mutations with one common mutation in Taiwan's population

MING-CHING SHENWang, Jiaan-DerJiaan-DerWangTsai, WoeiWoeiTsaiLin, Ching-YehChing-YehLinLin, Jen-ShiouJen-ShiouLinKuo, Su-FengSu-FengKuoLin, Po-TePo-TeLinHuang, Ying-ChihYing-ChihHuangHung, Mei-HuaMei-HuaHung2021-12-012021-12-012021-1113518216https://scholars.lib.ntu.edu.tw/handle/123456789/589074Congenital fibrinogen disorders (CFDs) are caused by mutations in fibrinogen-encoding genes, FGA, FGB, and FGG, which lead to quantitative or qualitative abnormalities of fibrinogen. Although the diagnosis of CFDs is based on antigenic and functional level of fibrinogen, few genotypes are clearly correlated with phenotype.enbleeding; congenital fibrinogen disorders; fibrinogen; gene; mutationsClinical features and genetic defect in six index patients with congenital fibrinogen disorders: Three novel mutations with one common mutation in Taiwan's populationjournal article10.1111/hae.14399344609792-s2.0-85113750377https://api.elsevier.com/content/abstract/scopus_id/85113750377