Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure
快速全外显子组测序在诊断伴有胎儿水肿和急性肝功能衰竭的尼曼-匹克病C型中的应用价值
期刊:Cold Spring Harbor Molecular Case Studies
影响因子:1.8
doi:10.1101/mcs.a002147
Rohanizadegan, Mersedeh; Abdo, Sara M; O'Donnell-Luria, Anne; Mihalek, Ivana; Chen, Peggy; Sanders, Marilyn; Leeman, Kristen; Cho, Megan; Hung, Christina; Bodamer, Olaf