Whole Exome Sequencing Identifies a Novel Homozygous Missense Mutation in the CSB Protein-Encoding ERCC6 Gene in a Taiwanese Boy with Cockayne Syndrome

por Lin, Ching-Ming, Yang, Jay-How, Lee, Hwei-Jen, Lin, Yu-Pang, Tsai, Li-Ping, Hsu, Chih-Sin, Luxton, G. W. Gant, Hu, Chih-Fen
Publicado 2021