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IDUA Gene Mutations in Mucopolysaccharidosis Type‐1 Patients from Two Pakistani Inbred Families

Congenital Anomalies(2019)

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摘要
Mucopolysaccharidosis type-I (MPS-1) is an autosomal recessive lysosomal storage disorder caused by mutations in the α-L-iduronidase (IDUA) gene (OMIM 252800). This article is protected by copyright. All rights reserved.
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