Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01680.x/fullpdf
Reference19 articles.
1. The mucopolysaccharidoses: diagnosis, molecular genetics and treatment.;Hopwood;Mol Biol Med,1990
2. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.;Beesley;Hum Genet,2001
3. Human a-l-iduronidase:cDNA isolation and expression.;Scott;Proc Natl Acad Sci U S A,1991
4. Structure and sequence of the human a-l-iduronidase gene.;Scott;Genomics,1992
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