A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
在六个林奇综合征家族中发现了一种新的致病性MLH1错义突变，c.112A>C，p.Asn38His。
期刊:Hereditary Cancer in Clinical Practice
影响因子:2.4
doi:10.1186/1897-4287-8-7
van Riel, Els; Ausems, Margreet Gem; Hogervorst, Frans Bl; Kluijt, Irma; van Gijn, Marielle E; van Echtelt, Jeanne; Scheidel-Jacobse, Karen; Hennekam, Eric Fam; Stulp, Rein P; Vos, Yvonne J; Offerhaus, G Johan A; Menko, Fred H; Gille, Johan Jp
