Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets

作者:Huang Yanru; Mei Libin; Pan Qian; Tan Hu; Quan Yi; Gui Baoheng; Chang Jiazhen; Ma Ruiyu; Peng Ying; Yang Pu; Liang Desheng; Wu Lingqian
来源:Gene, 2015, 565(1): 150-154.
DOI:10.1016/j.gene.2015.03.066