Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs
导致洛佩斯-马西尔-罗丹综合征的突变是亨廷顿基因次等位基因
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddaa283
Roy Jung, Yejin Lee, Douglas Barker, Kevin Correia, Baehyun Shin, Jacob Loupe, Ryan L Collins, Diane Lucente, Jayla Ruliera, Tammy Gillis, Jayalakshmi S Mysore, Lance Rodan, Jonathan Picker, Jong-Min Lee, David Howland, Ramee Lee, Seung Kwak, Marcy E MacDonald, James F Gusella, Ihn Sik Seong