Novel FBN1 Heterozygous Mutations Identified in Chinese Families with Marfan Syndrome.

CONCLUSIONS: In this study, three novel and a recurrent FBN1 mutations were detected. The results expand the mutation spectrum of FBN1, helping in the study of molecular pathogenesis of MFS and Marfan-related disorders. PMID: 31471346 [PubMed - in process]
Source: Annals of Clinical and Laboratory Science - Category: Laboratory Medicine Authors: Tags: Ann Clin Lab Sci Source Type: research