PMID 1301196 1992 A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
PMID 11735025 2001 Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
PMID 23786846 2013 Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
PMID 19751987 2010 Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.
PMID 24368159 2014 Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.
rs121965019 in
IDUA gene and
Mucopolysaccharidosis I
PMID 8680403 1995 Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
PMID 23786846 2013 Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
PMID 24368159 2014 Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.
PMID 10215409 1998 Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online.
PMID 11735025 2001 Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
PMID 19751987 2010 Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.
PMID 24698225 2014 [Hurler syndrome: early diagnosis and treatment].
PMID 21394825 2011 IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
PMID 9427149 1997 Mutations among Italian mucopolysaccharidosis type I patients.
PMID 1301196 1992 W402X introduces a MaeI restriction endonuclease site into MPS-I alleles enabling its simple detection, which should make possible the assessment of the efficacy of bone marrow transplantation in MPS-I patients homozygous for W402X.
PMID 12509712 2003 Eleven different mutations including two common mutations (Q70X, W402X), five recurrent mutations (D315Y, P533R, R621X, R628X, S633L), and four novel mutations (R162I, G208D, 1352delG, 1952del25bp) were identified from MPS I patients.
PMID 24798265 2015 Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.
PMID 7951228 1994 Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.
PMID 27511503 2016 Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.
rs121965019 in
IDUA gene and
Mucopolysaccharidosis V
PMID 24368159 2014 Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.
PMID 19751987 2010 Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.
PMID 1301196 1992 A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
PMID 23786846 2013 Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
rs121965019 in
IDUA gene and
Pfaundler-Hurler Syndrome
PMID 19751987 2010 The Idua-W392X mutation is analogous to the human IDUA-W402X mutation commonly found in MPS I-H patients.
PMID 24368159 2014 Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.