DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
American Journal Of Human Genetics
Logan, Clare V CV; Murray, Jennie E JE; Parry, David A DA; Robertson, Andrea A; Bellelli, Roberto R; Tarnauskaitė, Žygimantė Ž; Challis, Rachel R; Cleal, Louise L; Borel, Valerie V; Fluteau, Adeline A; Santoyo-Lopez, Javier J; , ; Aitman, Tim T; Barroso, Inês I; Basel, Donald D; Bicknell, Louise S LS; Goel, Himanshu H; Hu, Hao H; Huff, Chad C; Hutchison, Michele M; Joyce, Caroline C; Knox, Rachel R; Lacroix, Amy E AE; Langlois, Sylvie S; McCandless, Shawn S; McCarrier, Julie J; Metcalfe, Kay A KA; Morrissey, Rose R; Murphy, Nuala N; Netchine, Irène I; O'Connell, Susan M SM; Olney, Ann Haskins AH; Paria, Nandina N; Rosenfeld, Jill A JA; Sherlock, Mark M; Syverson, Erin E; White, Perrin C PC; Wise, Carol C; Yu, Yao Y; Zacharin, Margaret M; Banerjee, Indraneel I; Reijns, Martin M; Bober, Michael B MB; Semple, Robert K RK; Boulton, Simon J SJ; Rios, Jonathan J JJ; Jackson, Andrew P AP
A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.
Familial Cancer
Hansen, Maren F MF; Johansen, Jostein J; Bjørnevoll, Inga I; Sylvander, Anna E AE; Steinsbekk, Kristin S KS; Sætrom, Pål P; Sandvik, Arne K AK; Drabløs, Finn F; Sjursen, Wenche W