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 syndr...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Sociedade Brasileira de Genética
2011-01-01
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Series: | Genetics and Molecular Biology |
Subjects: | |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000200004 |