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Publications by M. Caputi
A Nonsense Mutation in the Fibrillin-1 Gene of a Marfan Syndrome Patient Induces NMD and Disrupts an Exonic Splicing Enhancer
Genes and Development
Genetics
Developmental Biology
Related publications
Microcornea and Subluxated Lenses Due to a Splicing Error in the Fibrillin-1 Gene in a Patient With Marfan Syndrome
Archives of Ophthalmology
Linking C5 Deficiency to an Exonic Splicing Enhancer Mutation
Journal of Immunology
Allergy
Immunology
Double Mutant Fibrillin-1 (FBN1) Allele in a Patient With Neonatal Marfan Syndrome.
Journal of Medical Genetics
Genetics
A Recurring FBN1 Gene Mutation in Neonatal Marfan Syndrome
Archives of Pediatrics & Adolescent Medicine
Selection of the Bovine Papillomavirus Type 1 Nucleotide 3225 3' Splice Site Is Regulated Through an Exonic Splicing Enhancer and Its Juxtaposed Exonic Splicing Suppressor.
Journal of Virology
Insect Science
Immunology
Microbiology
Virology
A Novel Nonsense Mutation of the PEPD Gene in a Japanese Patient With Prolidase Deficiency
Journal of Human Genetics
Genetics
A Synonymous Mutation in SPINK5 Exon 11 Causes Netherton Syndrome by Altering Exonic Splicing Regulatory Elements
Journal of Human Genetics
Genetics
Evidence for the Function of an Exonic Splicing Enhancer After the First Catalytic Step of Pre-mRNA Splicing
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Multisite and Bidirectional Exonic Splicing Enhancer in CD44 Alternative Exon V3
RNA
Molecular Biology
