A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome

Torrado, M; Maneiro, E; Trujillo-Quintero, JP; Evangelista, A; Mikhailov, AT; Monserrat, L

Mikhailov, AT (reprint author), Univ A Coruna, Inst Hlth Sci, La Coruna, Spain.

BIOMED RESEARCH INTERNATIONAL, 2018; ():

Abstract

Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (FBN1) gene. We, ......

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