title: Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome.
authors.affiliation: Unidad Gestión Clínica Digestivo, Hospital Universitario S. Cecilio de Granada, Avenida de Madrid s/n, Granada, Spain.
authors.forename: J L Martín
authors.initials: JL
authors.lastname: Ruiz
authors.forename: M J
authors.initials: MJ
authors.lastname: Alvarez-Cubero
authors.forename: F Fernandez
authors.initials: FF
authors.lastname: Rosado
authors.forename: E Martinez
authors.initials: EM
authors.lastname: Espín
authors.forename: C Entrala
authors.initials: CE
authors.lastname: Bernal
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D053843:DNA Mismatch Repair / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D053842:Microsatellite Instability; D000070957:MutL Protein Homolog 1; D009154:Mutation / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D022821:RNA Splice Sites; D000070957:MutL Protein Homolog 1