Identification and characterization of novel mutations in Chinese patients with congenital fibrinogen disorders.

CONCLUSION: This study in a relatively large cohort of Chinese patients with congenital fibrinogen disorders enabled the identification of five new fibrinogen missense mutations. In silico modeling may represent a valuable tool for understanding amino acid residues from novel variants leading to congenital fibrinogen disorders, but it should be followed by functional studies. Clinical presentation of fibrinogen disorders was variable, possibly due to genetic and environmental modifiers. PMID: 32877852 [PubMed - as supplied by publisher]
Source: Blood Cells, Molecules and Diseases - Category: Hematology Authors: Tags: Blood Cells Mol Dis Source Type: research