Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.
Human Mutation
Hesson, Luke B LB; Packham, Deborah D; Kwok, Chau-To CT; Nunez, Andrea C AC; Ng, Benedict B; Schmidt, Christa C; Fields, Michael M; Wong, Jason W H JW; Sloane, Mathew A MA; Ward, Robyn L RL
The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.
European Journal Of Human Genetics : Ejhg
Kwok, Chau-To CT; Vogelaar, Ingrid P IP; van Zelst-Stams, Wendy A WA; Mensenkamp, Arjen R AR; Ligtenberg, Marjolijn J MJ; Rapkins, Robert W RW; Ward, Robyn L RL; Chun, Nicolette N; Ford, James M JM; Ladabaum, Uri U; McKinnon, Wendy C WC; Greenblatt, Marc S MS; Hitchins, Megan P MP