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Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

Vitro ExpressionMutational AnalysisMucopolysaccharidosis TypeGenetic DisorderGeneticsImmunodeficienciesPathologyMolecular GeneticsDisease Gene IdentificationMedicineLysosomal Storage DiseaseMutagenesis