Listar GI- GRINCAR - Artigos por autor "Trujillo-Quintero, Juan Pablo"
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A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
Torrado, Mario; Maneiro, Emilia; Trujillo-Quintero, Juan Pablo; Evangelista, Arturo; Mikhailov, Alexander T.; Monserrat, Lorenzo (Hindawi, 2018)[Abstract] Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (FBN1) gene. We, by using targeted next-generation sequence analysis, identified ...