article_metadata: Mario Torrado Emilia Maneiro Juan Pablo Trujillo-Quintero Arturo Evangelista Alexander T Mikhailov Lorenzo Monserrat
article_metadata: 10.1155/2018/3536495
article_metadata: Biomed Res Int
article_metadata: 2018 May 29;2018:3536495.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/30003093/
article_metadata: Fibrillin-1 / genetics Introns / genetics Marfan Syndrome / genetics Mutation
article_metadata: Fibrillin-1 / genetics Introns / genetics Marfan Syndrome / genetics Mutation Case Reports Adult Aorta / pathology Dilatation, Pathologic Heterozygote Humans Male Microfilament Proteins FBN1 protein, human Fibrillin-1 Microfilament Proteins
article_metadata: PMC5996431
article_metadata: 30003093
article_metadata: A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
article_metadata: 2018