IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families.

Rutaba Gul,Sabika Firasat,Mulazim Hussain,Kiran Afshan, Dil Nawaz

CONGENITAL ANOMALIES（2020）

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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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idua gene mutations

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