Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA
Keywords: برش سولفات; C6S; chondroitin-6-sulfate; cDNA; complementary deoxyribonucleic acid; GAGs; glycosaminoglycans; GALNS; N-acetylgalactosamine-6-sulfatase; gDNA; genomic DNA; HCPA; Hospital de ClÃnicas de Porto Alegre; HGMD; The Human Gene Mutation Database; KS; keratan