Mario Torrado Emilia Maneiro Juan Pablo Trujillo-Quintero Arturo Evangelista Alexander T Mikhailov Lorenzo Monserrat
10.1155/2018/3536495
Biomed Res Int
2018 May 29;2018:3536495.
CC BY
https://pubmed.ncbi.nlm.nih.gov/30003093/
Fibrillin-1 / genetics Introns / genetics Marfan Syndrome / genetics Mutation
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
PMC5996431
30003093
A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
2018