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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...
Autores principales: | Sun, Luning, Li, Chunyi, Song, Xiaoyu, Zheng, Ningning, Zhang, Haipeng, Dong, Guizhang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115308/ https://www.ncbi.nlm.nih.gov/pubmed/21734815 http://dx.doi.org/10.1590/S1415-47572011005000006 |
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