Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation
Dent病2型中人类OCRL旁系同源基因的双基因突变与Chiari I型畸形相关
期刊:Human Genome Variation
影响因子:1.3
doi:10.1038/hgv.2016.42
Duran, Daniel; Jin, Sheng Chih; DeSpenza, Tyrone Jr; Nelson-Williams, Carol; Cogal, Andrea G; Abrash, Elizabeth W; Harris, Peter C; Lieske, John C; Shimshak, Serena Je; Mane, Shrikant; Bilguvar, Kaya; DiLuna, Michael L; Günel, Murat; Lifton, Richard P; Kahle, Kristopher T