Four novel mutations underlying mild or
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Phuong T. Tieu; Gideon Bach; Anna Matynia; Michael Hwang; Elizabeth F. Neufeld
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Article
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1995
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John Wiley and Sons
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English
β 494 KB
The a-L-iduronidase deficiency diseases (Mucopolysaccharidosis I) cover a spectrum of clinical severity ranging from the very severe (Hurler syndrome, MPS I H ) through an intermediate (HurleriScheie syndrome, MPS IWS) to a relatively mild form (Scheie syndrome, MPS IS). Numerous mutations of the ge