Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia.

Gemmati, Donato; Longo, Giovanna; Franchini, Eugenia; Araujo Silva, Juliana; Gallo, Ines; Lunghi, Barbara; Moratelli, Stefano; Maestri, Iva; Serino, Maria Luisa; Tisato, Veronica

Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia.

Gemmati, Donato; Longo, Giovanna; Franchini, Eugenia; Araujo Silva, Juliana; Gallo, Ines; Lunghi, Barbara; Moratelli, Stefano; Maestri, Iva; Serino, Maria Luisa; Tisato, Veronica.

Afiliación

Gemmati D; Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy.
Longo G; Centre Haemostasis & Thrombosis, University of Ferrara, 44121 Ferrara, Italy.
Franchini E; University Center for Studies on Gender Medicine, University of Ferrara, 44121 Ferrara, Italy.
Araujo Silva J; Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy.
Gallo I; Centre Haemostasis & Thrombosis, University of Ferrara, 44121 Ferrara, Italy.
Lunghi B; Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy.
Moratelli S; Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy.
Maestri I; Department of Life Sciences and Biotechnology, University of Ferrara, 44121 Ferrara, Italy.
Serino ML; Centre Haemostasis & Thrombosis, University of Ferrara, 44121 Ferrara, Italy.
Tisato V; Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.

Genes (Basel) ; 12(6)2021 06 18.

Article en En | MEDLINE | ID: mdl-34207366

Asunto(s)

Antitrombina III/genética; Factor V/genética; Trombofilia/genética; Tromboembolia Venosa/genética; Adulto; Niño; Codón sin Sentido; Femenino; Humanos; Lactante; Masculino; Persona de Mediana Edad; Mutación Missense; Linaje; Trombofilia/patología; Tromboembolia Venosa/patología

Palabras clave

F5; FV Leiden; GWAS; SERPINC1; cis-segregation; crossing-over; inherited thrombophilia

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factor V / Antitrombina III / Trombofilia / Tromboembolia Venosa Tipo de estudio: Prognostic_studies Límite: Adult / Child / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Italia

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