Genetic & Genomic MedicineHuman MutationPeer-reviewed
Juvenile Mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A
Elena Pavlova, Dorit Lev, Marina Michelson…·Timothy Martin Cox
The paper identifies a missense mutation in VPS33A causing an attenuated juvenile form of mucopolysaccharidosis plus and shows potential therapeutic interventions.
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