Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
The Role of c-Met as a Biomarker and Player in Innate and Acquired Resistance in Non-Small-Cell Lung Cancer: Two New Mutations Warrant Further Studies.
Molecules (Basel, Switzerland)
Van Der Steen, Nele N; Zwaenepoel, Karen K; Mazzaschi, Giulia G; A Luirink, Rosa R; P Geerke, Daan D; Op de Beeck, Ken K; Hermans, Christophe C; Tiseo, Marcello M; Van Schil, Paul P; Lardon, Filip F; Germonpré, Paul P; Rolfo, Christian C; Giovannetti, Elisa E; J Peters, Godefridus G; Pauwels, Patrick P