Uncovering dual molecular diagnoses in families with complex phenotypes through structural and clinical studies of novel COL4A6 variants
通过对新型 COL4A6 变异体的结构和临床研究,揭示具有复杂表型家族的双重分子诊断
期刊:Qjm-An International Journal of Medicine
影响因子:6.4
doi:10.1093/qjmed/hcaf246
Owrang, Daniel; Rad, Aboulfazl; Cretu, Constantin; Lin, Sheng-Jia; Mustafa, Hafiz Muhammad; Huang, Kevin; Waheed, Nadia; Hussain, Maqbool; Riaz, Sadia; Preobraschenski, Julia; Varshney, Gaurav K; Oprea, Gabriela; Vona, Barbara