An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease | Journal of Human Genetics
Genes | Free Full-Text | Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders
DNA Diagnostics of the Marfan Syndrome: Application of Amplifiable Polymorphic Markers | European Journal of Human Genetics
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
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1 | Nature Genetics
Genes | Free Full-Text | FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review
![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]
![PDF] Informative STR Markers for Marfan Syndrome in Birjand, Iran | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/232294ff2f3f8a828d9f5eb8c3a52b2b7e4a445c/3-Figure1-1.png "PDF] Informative STR Markers for Marfan Syndrome in Birjand, Iran | Semantic Scholar")
PDF] Informative STR Markers for Marfan Syndrome in Birjand, Iran | Semantic Scholar
Solved You have obtained a human pedigree showing the | Chegg.com
Original Article Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome
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
CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans - Yin - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome | Scientific Reports
Genes | Free Full-Text | Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders
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
Fbn1 gene targeting strategy | Download Scientific Diagram
Fibrillin-1–enriched microenvironment drives endothelial injury and vascular rarefaction in chronic kidney disease | Science Advances
A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
Biomolecules | Free Full-Text | Fibrillin-1 Regulates Arteriole Integrity in the Retina
A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
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
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
DNA methylation of 10 candidate biomarkers. a DNA methylation levels,... | Download Scientific Diagram
