A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase

Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Yasuyuki Fukuhara, Ai Miura, Narutoshi Yamazaki, Tetsumin So, Motomichi Kosuga, Kumiko Yanagi, Tadashi Kaname, Takanori Yamagata, Hitoshi Sakuraba, Torayuki Okuyama

Source: Molecular Genetics and Metabolism Reports - December 11, 2020 Category: Genetics & Stem Cells Source Type: research