Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease
通过全基因组分析鉴定出常染色体显性遗传夏科-马里-图斯病中存在85 kb杂合4p微缺失
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000200078
Hsueh, Hsueh Wen; Kao, Hsiao-Jung; Chao, Chi-Chao; Hsueh, Sung-Ju; Huang, Yu-Ning; Lin, Wan-Jia; Su, Jen-Ping; Shy, Horng-Tzer; Yeh, Ti-Yen; Lin, Cheng-Chen; Kwok, Pui-Yan; Lee, Ni-Chung; Hsieh, Sung-Tsang