Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes

Human Mutation

Volumn 28, Issue 11, 2007, Pages 1047-1054

  Ou, Jianghua ^a,d   Niessen, Renée C ^a   Lützen, Anne ^b   Sijmons, Rolf H ^a   Kleibeuker, Jan H ^a   De Wind, Niels ^c   Rasmussen, Lene Juel ^b   Hofstra, Robert M W ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b ROSKILDE UNIVERSITY   (Denmark)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d Xinj Iang Medical University   (China)

Author keywords

Database; Functional assays; HNPCC; Lynch syndrome; Mismatch repair genes; Missense mutations

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

AMINO ACID SUBSTITUTION; COLORECTAL CANCER; DNA POLYMORPHISM; FAMILIAL CANCER; GEL MOBILITY SHIFT ASSAY; HETEROZYGOSITY LOSS; HUMAN; IN VITRO STUDY; MISMATCH REPAIR; MISSENSE MUTATION; MUTATION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; REVIEW; TWO HYBRID SYSTEM;

BASE PAIR MISMATCH; DNA REPAIR; HUMANS; POLYMORPHISM, GENETIC;

EID: 35648938715     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20580     Document Type: Review

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