TY  - GEN
AU  - Ruiz,J L Martín
AU  - Alvarez-Cubero,M J
AU  - Rosado,F Fernandez
AU  - Espín,E Martinez
AU  - Bernal,C Entrala
TI  - Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome
SN  - 1432-1262
PY  - 2015///0330
KW  - Adaptor Proteins, Signal Transducing
KW  - genetics
KW  - Colorectal Neoplasms, Hereditary Nonpolyposis
KW  - DNA Mismatch Repair
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Microsatellite Instability
KW  - MutL Protein Homolog 1
KW  - Mutation
KW  - Nuclear Proteins
KW  - RNA Splice Sites
N1  - Publication Type: Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00384-014-1890-2
ER  -