Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
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DOI: 10.1016/j.ejmg.2022.104447
Abstract: MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. In this study, we explored the clinical and molecular spectrum of 144 Indian patients with MPS II from… read more here.
Keywords: 130 unrelated; sanger sequencing; phenotype; genotype phenotype ... See more keywords