A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis
Young Bae Sohn, Su Jin Kim, Sung Won Park, Hyung-Doo Park, Chang-Seok Ki, Chi Hwa Kim, Seung Won Huh, Sunghee Yeau, Kyung-Hoon Paik, Dong-Kyu Jin Samsung Medical Center.Republic of Korea American Journal of Medical GeneticsAm J Med Genet 2010; 152A: 3129-3132DOI: 10.1002/ajmg.a.33589 AbstractMucopolysaccharidosis type II (Hunter syndrome) is a lysosomal storage disease caused by a deficiency […]