Article

Molecular Characterization of the IDUA Gene: Identification of a Haplotype associated with the p.P533R Mutation in the Maghreb Population

2023-12-04

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> The mucopolysaccharidosis type I (MPSI) is a lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDUA) leading to the accumulation of partially degraded dermatan sulfate and heparan sulfate. This 8-years this retrospective study analyzed data from42 MPSI patients. The aim of this report was to investigate the possible origin of the p.P533R m...

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Literature Corpus work: 4dd118c6-d26e-554a-9f9a-1e7e732705ee
DOI: 10.21203/rs.3.rs-3587496/v1

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