Correction of the Marfan Syndrome Pathogenic FBN1 Mutation by Base Editing in Human Cells and Heterozygous Embryos: Molecular Therapy
Professor Penny Handford Research Group
Marfan Syndrome Caused by Somatic Mosaicism in an FBN1 Splicing Mutation | Revista Española de Cardiología
The Genetics of Marfan Syndrome – BIOL2013H 2019
A novel FBN1 mutation causes autosomal dominant Marfan syndrome
Causes
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Marfan syndrome: biological basis and genetics | British Journal of Cardiac Nursing
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![PDF] A recurring FBN1 gene mutation in neonatal Marfan syndrome. | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/3726738b302ecfda68b27d16448806987a05ab94/3-Figure3-1.png "PDF] A recurring FBN1 gene mutation in neonatal Marfan syndrome. | Semantic Scholar")
PDF] A recurring FBN1 gene mutation in neonatal Marfan syndrome. | Semantic Scholar
Schematic view of Marfan syndrome pathophysiology. Mutation in FBN1... | Download Scientific Diagram
Correction of the Marfan Syndrome Pathogenic FBN1 Mutation by Base Editing in Human Cells and Heterozygous Embryos: Molecular Therapy
![PDF] Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/8aaf29ea06bc2c695e1c09bb04a97aa54bcc2921/3-Figure1-1.png "PDF] Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. | Semantic Scholar")
PDF] Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. | Semantic Scholar
JCM | Free Full-Text | Translational Medicine: Towards Gene Therapy of Marfan Syndrome
Marfan's Syndrome - an overview | ScienceDirect Topics
DNA methylation ambiguity in the Fibrillin-1 (FBN1) CpG island shore possibly involved in Marfan syndrome | Scientific Reports
A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer
Marfan syndrome: MedlinePlus Genetics
Marfan Syndrome
Fibrillin 1 - an overview | ScienceDirect Topics
IJMS | Free Full-Text | TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene | Molecular Cytogenetics | Full Text
Marfan Syndrome | cdc.gov
![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-1-2x.jpg "Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome [PeerJ]")