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Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene

R468q MutationsGenetic DisorderGeneticsPathogenesisGenetic EpidemiologyPathologyMucopolysaccharidosis Type IiDisease Gene IdentificationMedicineLysosomal Storage DiseaseGenotype-phenotype Correlation