Publications:

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

Biomed Research International

Torrado, Mario M; Maneiro, Emilia E; Trujillo-Quintero, Juan Pablo JP; Evangelista, Arturo A; Mikhailov, Alexander T AT; Monserrat, Lorenzo L

Publication Date: 2018

Variant appearance in text: FBN1: 539-130G>C; rs147780575

PubMed Link: 30003093

Variant Present in the following documents:

• Main text
• BMRI2018-3536495.pdf

View BVdb publication page