Browsing by Subject "Mutation detection"
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Phenotype-oriented NGS panels for mucopolysaccharidoses : validation and potential use in the diagnostic flowchart
(2019) [Journal article]Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of ...