![Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome [PeerJ]](https://dfzljdn9uc3pi.cloudfront.net/2018/5927/1/fig-1-full.png "Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome [PeerJ]")
Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome [PeerJ]
CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans - Yin - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Fibrillin-1–enriched microenvironment drives endothelial injury and vascular rarefaction in chronic kidney disease | Science Advances
Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders | European Journal of Human Genetics
Generation of a human iPSC line from a patient with Marfan syndrome caused by mutation in FBN1 - ScienceDirect
Genes | Free Full-Text | FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review
The Molecular Genetics of Marfan Syndrome
DNA methylation of 10 candidate biomarkers. a DNA methylation levels,... | Download Scientific Diagram
A New Mouse Model for Marfan Syndrome Presents Phenotypic Variability Associated with the Genetic Background and Overall Levels of Fbn1 Expression | PLOS ONE
Position of polymorphic markers within and flanking the FBN1 gene (12) | Download Scientific Diagram
PDF) Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations
Genes | Free Full-Text | Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders
CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans - Yin - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library
An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death | Nature Genetics
An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease | Journal of Human Genetics
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome | BMC Medical Genetics | Full Text
A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
DNA Diagnostics of the Marfan Syndrome: Application of Amplifiable Polymorphic Markers | European Journal of Human Genetics
Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome | Scientific Reports
A Molecular Approach to the Stratification of Cardiovascular Risk in Families with Marfan's Syndrome | NEJM
PDF) Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations
Fbn1 gene targeting strategy | Download Scientific Diagram
