Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome.
Ruiz, J L Martín
Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome. [electronic resource] - International journal of colorectal disease Aug 2014 - 1019-20 p. digital
Publication Type: Letter; Research Support, Non-U.S. Gov't
1432-1262
10.1007/s00384-014-1890-2 doi
Adaptor Proteins, Signal Transducing--genetics
Colorectal Neoplasms, Hereditary Nonpolyposis--genetics
DNA Mismatch Repair--genetics
Genetic Predisposition to Disease
Humans
Microsatellite Instability
MutL Protein Homolog 1
Mutation--genetics
Nuclear Proteins--genetics
RNA Splice Sites--genetics
Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome. [electronic resource] - International journal of colorectal disease Aug 2014 - 1019-20 p. digital
Publication Type: Letter; Research Support, Non-U.S. Gov't
1432-1262
10.1007/s00384-014-1890-2 doi
Adaptor Proteins, Signal Transducing--genetics
Colorectal Neoplasms, Hereditary Nonpolyposis--genetics
DNA Mismatch Repair--genetics
Genetic Predisposition to Disease
Humans
Microsatellite Instability
MutL Protein Homolog 1
Mutation--genetics
Nuclear Proteins--genetics
RNA Splice Sites--genetics