Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families

Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families

Mucopolysaccharidosis type I (MPS I) arises from a deficiency in the α-L-iduronidase (IDUA) enzyme. Although the clinical spectrum in MPS I patients is continuous, it was possible to recognize 3 phenotypes reflecting the severity of symptoms, viz., the Hurler, Scheie and Hurler/Scheie syndromes. In...

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Bibliographic Details
Main Authors: Luning Sun, Chunyi Li, Xiaoyu Song, Ningning Zheng, Haipeng Zhang, Guizhang Dong
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2011-01-01
Series:Genetics and Molecular Biology
Subjects:
mucopolysaccharidosis type I
α-L-iduronidase
mutation
polymorphism
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000200004&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000200004&lng=en&tlng=en

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