Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations
对 70 名 46,XY DSD 儿童进行 MAMLD1 基因突变筛查:鉴定并进行两种新突变的功能分析
期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0032505
Kalfa, Nicolas; Fukami, Maki; Philibert, Pascal; Audran, Francoise; Pienkowski, Catherine; Weill, Jacques; Pinto, Graziella; Manouvrier, Sylvie; Polak, Michel; Ogata, Totsumo; Sultan, Charles