PMID 29393969 2018 Worldwide distribution of common IDUA pathogenic variants.
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 1301941 1992 alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
rs121965020 in
SLC26A1;IDUA gene and
Mucopolysaccharidosis I
PMID 9787109 1998 Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.
PMID 9427149 1997 Mutations among Italian mucopolysaccharidosis type I patients.
PMID 8680403 1995 Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
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 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 8401515 1993 Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.
PMID 23786846 2013 Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
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 21831683 2011 A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.
PMID 24314423 2013 The great masquerade: delayed diagnosis of mucopolysaccharidosis in adulthood.
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 18796143 2008 The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK.
PMID 19396826 2009 Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
PMID 1301941 1992 We have now described three mutations, W402X (Scott et al., 1992c), Q70X, and P533R totalling 53% of MPS-I alleles which together define 28% of MPS-I genotypes.
rs121965020 in
SLC26A1;IDUA gene and
Mucopolysaccharidosis V
PMID 23786846 2013 Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
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 1301941 1992 alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
rs121965020 in
SLC26A1;IDUA gene and
Pfaundler-Hurler Syndrome
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 10215409 1998 Patient with Q70X/Q70X genotype had a severe Hurler phenotype.
PMID 19396826 2009 Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
PMID 1301941 1992 alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
PMID 11735025 2001 In this study, 85 MPS I families (73 Hurler, 5 Hurler/Scheie, 7 Scheie) were screened for 9 known mutations (Q70X, A75T, 474-2a>g, L218P, A327P, W402X, P533R, R89Q, 678-7g>a).
PMID 23786846 2013 Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.