A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma
由移码突变产生的 FZD5 分泌型 WNT 配体结合域导致常染色体显性缺损
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddw020
Chunqiao Liu, Sonya A Widen, Kathleen A Williamson, Rinki Ratnapriya, Christina Gerth-Kahlert, Joe Rainger, Ramakrishna P Alur, Erin Strachan, Souparnika H Manjunath, Archana Balakrishnan, James A Floyd; UK10K Consortium; Tiansen Li, Andrew Waskiewicz, Brian P Brooks, Ordan J Lehmann, David R FitzPa
