title: Large Family With Marfan Syndrome Demonstrating the Pathogenicity of a "Synonymous" Variant (p.Ile2118=) in the Fibrillin-1 Gene.
authors.affiliation: Departamento Clínico, Health in Code, A Coruña, Spain.
authors.forename: Juan Pablo
authors.initials: JP
authors.lastname: Trujillo-Quintero
authors.affiliation: Servicio de Cirugía Cardiaca, Complexo Hospitalario Universitario de A Coruña, Instituto de Investigación Biomédica de A Coruña (INIBIC), Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain.
authors.forename: José María
authors.initials: JM
authors.lastname: Herrera-Noreña
authors.affiliation: Servicio de Cirugía Cardiaca, Complexo Hospitalario Universitario de A Coruña, Instituto de Investigación Biomédica de A Coruña (INIBIC), Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain.
authors.forename: Víctor X
authors.initials: VX
authors.lastname: Mosquera-Rodríguez
authors.affiliation: Fundación Novoa Santos, Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, Spain.
authors.forename: Xusto
authors.initials: X
authors.lastname: Fernández-Fernández
authors.affiliation: Servicio de Cardiología, Complexo Hospitalario Universitario de A Coruña, Instituto de Investigación Biomédica de A Coruña (INIBIC), Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain.
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Vázquez-Rodríguez
authors.affiliation: Servicio de Cardiología, Complexo Hospitalario Universitario de A Coruña, Instituto de Investigación Biomédica de A Coruña (INIBIC), Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain. Electronic address: rbarrialesv@gmail.com.
authors.forename: Roberto
authors.initials: R
authors.lastname: Barriales-Villa
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D000071838:Fibrillin-1 / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D055815:Young Adult
chemical_list: D000071838:Fibrillin-1; D004247:DNA