Novel IDUA variant confirmed in MPS I as embryo screening yields healthy child
A novel IDUA variant, c.1379T>C (p.Leu460Pro), has been linked to MPS I for the first time, and preimplantation genetic testing ...
A novel IDUA variant, c.1379T>C (p.Leu460Pro), has been linked to MPS I for the first time, and preimplantation genetic testing ...
Scientists have long known that mucopolysaccharidosis type I, or MPS I, arises when a single lysosomal enzyme called α-ʟ-iduronidase (IDUA) ...
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© 2025 Scienmag - Science Magazine