A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
Original Article Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome
Frontiers | 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
Generation of a human iPSC line from a patient with Marfan syndrome caused by mutation in FBN1 - ScienceDirect
Generation of Marfan patient specific iPSCs (ICSSUi001-A) carrying a novel heterozygous mutation in FBN1 gene - ScienceDirect
Generation of a CRISPR/Cas9-corrected-hiPSC (NCCDFWi001-A-1) from a Marfan syndrome patient hiPSC with a heterozygous c.2613A>C variant in the fibrillin 1 (FBN1) gene - ScienceDirect
A Molecular Approach to the Stratification of Cardiovascular Risk in Families with Marfan's Syndrome | NEJM
The Molecular Genetics of Marfan Syndrome
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1 | Nature Genetics
A New Mouse Model for Marfan Syndrome Presents Phenotypic Variability Associated with the Genetic Background and Overall Levels of Fbn1 Expression | PLOS ONE
Localization of mutations in FBN1 and results from qualitative analysis... | 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
Fbn1 gene targeting strategy | Download Scientific Diagram
Genes | Free Full-Text | FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review
Biomolecules | Free Full-Text | Fibrillin-1 Regulates Arteriole Integrity in the Retina
![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]
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects | European Journal of Human Genetics
Genes | Free Full-Text | Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders
Solved You have obtained a human pedigree showing the | Chegg.com
Genes | Free Full-Text | FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review
Frontiers | 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
Fibrillin-1–enriched microenvironment drives endothelial injury and vascular rarefaction in chronic kidney disease | Science Advances
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome | BMC Medical Genetics | Full Text
Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders | European Journal of Human Genetics
Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome | Scientific Reports
CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans - Yin - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Position of polymorphic markers within and flanking the FBN1 gene (12) | Download Scientific Diagram
