Four novel mutations underlying mild or intermediate forms of α-L-iduronidase deficiency (MPS IS and MPS IH/S)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference18 articles.
1. Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients
2. Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the α-L-iduronidase gene
3. Mutation analysis of 19 North American mucopolysaccharidosis type I patients: Identification of two additional frequent mutations
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