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Publications by Mark C. Vital

Microcornea and Subluxated Lenses Due to a Splicing Error in the Fibrillin-1 Gene in a Patient With Marfan Syndrome

Archives of Ophthalmology

English

Related publications

A Nonsense Mutation in the Fibrillin-1 Gene of a Marfan Syndrome Patient Induces NMD and Disrupts an Exonic Splicing Enhancer

Genes and Development

Developmental Biology

English

Artisan Aphakic Intraocular Lens Implantation in Cases of Subluxated Crystalline Lenses Due to Marfan Syndrome

Journal of Refractive Surgery

English

Double Mutant Fibrillin-1 (FBN1) Allele in a Patient With Neonatal Marfan Syndrome.

Journal of Medical Genetics

English

Marfan Syndrome: Fibrillin Expression and Microfibrillar Abnormalities in a Family With Predominant Ocular Defects.

Journal of Medical Genetics

English

Unprovoked Pulmonary Embolism in a Young Patient With Marfan Syndrome

English

Classical and Neonatal Marfan Syndrome Mutations in Fibrillin-1 Cause Differential Protease Susceptibilities and Protein Function

Journal of Biological Chemistry

Molecular Biology

English

Large Aortic Aneurysm and Dissection in a Patient With Marfan S Syndrome

Clinical & Biomedical Research

English

A Recurring FBN1 Gene Mutation in Neonatal Marfan Syndrome

Archives of Pediatrics & Adolescent Medicine

English

Weaning Failure in a Patient With Bullous Pemphigoid Syndrome Due to Takotsubo Syndrome

Journal of Anesthesia & Critical Care: Open Access

English