CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1775
Abstract: BACKGROUND Mutations in the fibrillin-1 gene (FBN1) are associated with various heritable connective tissue disorders (HCTD). The most studied HCTD is Marfan syndrome. Ninety percent of Marfan syndrome is caused by mutations in the FBN1… read more here.
Keywords: fbn1; crispr cas9; fbn1 zebrafish; model ... See more keywords
Exome sequencing identifies a novel FBN1 variant in a Chinese family with Marfan syndrome that includes aberrant right subclavian artery
Sign Up to like & getrecommendations! Published in 2024 at "European Heart Journal"
DOI: 10.1093/eurheartj/ehae666.3662
Abstract: Marfan syndrome (MFS) is an inherited autosomal dominant disorder that affects connective tissue with an incidence of about 1 in 5,000 to 10,000 people. Ninety percent of MFS is caused by mutations in the fibrillin-1… read more here.
Keywords: fbn1; family; marfan syndrome; variant ... See more keywords