Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies

Familial Cancer

Volumn 10, Issue 2, 2011, Pages 273-284

  Hardt, Karin ^a   Heick, Sven Boris ^b   Betz, Beate ^a   Goecke, Timm ^a   Yazdanparast, Haniyeh ^a   Küppers, Robin ^a   Servan, Kati ^a   Steinke, Verena ^c   Rahner, Nils ^c   Morak, Monika ^d   Holinski Feder, Elke ^d   Engel, Christoph ^e   Möslein, Gabriela ^f   Schackert, Hans Konrad ^g   Von Knebel Doeberitz, Magnus ^h   Pox, Christian ⁱ   Hegemann, Johannes H ^b   Royer Pokora, Brigitte ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b HEINRICH HEINE UNIVERSITY   (Germany)

^c UNIVERSITY HOSPITAL BONN   (Germany)

^d UNIVERSITY OF MUNICH   (Germany)

^e UNIVERSITY OF LEIPZIG   (Germany)

^f St Josef Hospital   (Germany)

^g DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^h UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

ⁱ RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

HNPCC; Missense variants; MLH1; Variants of unclassified significance

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1;

ARTICLE; CONTROLLED STUDY; EMBRYO; GENE EXPRESSION; GENETIC VARIABILITY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN CELL; HYBRID; IN VIVO STUDY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN INTERACTION; SITE DIRECTED MUTAGENESIS; WILD TYPE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; CELLS, CULTURED; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; HUMANS; MUTATION, MISSENSE; NUCLEAR PROTEINS; PROTEIN STRUCTURE, TERTIARY; TWO-HYBRID SYSTEM TECHNIQUES; YEASTS;

EID: 79958087213     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-011-9431-4     Document Type: Article

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