A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants

Human Mutation

Volumn 33, Issue 3, 2012, Pages 488-494

  Drost, Mark ^a   Zonneveld, José B M ^a   van Hees, Sandrine ^a   Rasmussen, Lene Juel ^b   Hofstra, Robert M W ^c   de Wind, Niels ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

DNA mismatch repair; Functional assay; Lynch syndrome; MSH2; MSH6; Variants of uncertain significance

Indexed keywords

AMINO ACID;

ARTICLE; CELL FREE SYSTEM; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN TISSUE; MISMATCH REPAIR; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL;

BIOLOGICAL ASSAY; BLOTTING, WESTERN; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA-BINDING PROTEINS; HUMANS; MUTATION, MISSENSE; MUTS HOMOLOG 2 PROTEIN; POLYMERASE CHAIN REACTION;

EID: 84857043026     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22000     Document Type: Article

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