Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human α-l-iduronidase (IDUA) gene
- 1 November 2002
- journal article
- research article
- Published by Elsevier BV in Genetics in Medicine
- Vol. 4 (6), 420-426
- https://doi.org/10.1097/00125817-200211000-00004
Abstract
No abstract availableThis publication has 21 references indexed in Scilit:
- Bayesian Haplotype Inference for Multiple Linked Single-Nucleotide PolymorphismsAmerican Journal of Human Genetics, 2002
- Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutationsHuman Genetics, 2001
- Mucopolysaccharidosis type I: Characterization of novel mutations affecting α‐ l‐iduronidase activityClinical Genetics, 1999
- Molecular Genetics of Mucopolysaccharidosis Type I: Mutation Analysis among the Patients of the Former Soviet UnionMolecular Genetics and Metabolism, 1998
- Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.Journal of Medical Genetics, 1997
- The human gene mutation databaseTrends in Genetics, 1997
- Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implicationsHuman Mutation, 1995
- Four novel mutations underlying mild or intermediate forms of α-L-iduronidase deficiency (MPS IS and MPS IH/S)Human Mutation, 1995
- Multiple polymorphisms within the α-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotypeHuman Molecular Genetics, 1993
- Structure and sequence of the human α-l-iduronidase geneGenomics, 1992