Article

Juvenile Mucopolysaccharidosis plus disease caused by a missense mutation in<i>VPS33A</i>

2022-08-30

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane-tethering protein complexes, HOPS and CORVET. <h4>Methods</h4> Whole Exome Sequencing identified a novel VPS33A mutation in a patient suffering from a variant form of mucopolysaccharid...

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Literature Corpus work: 78207d92-43ab-5036-b8ee-4799f680bb23
DOI: 10.1101/2022.08.27.22279208

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