|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.
|
24368159 |
2014 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
The great masquerade: delayed diagnosis of mucopolysaccharidosis in adulthood.
|
24314423 |
2013 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
|
23786846 |
2013 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
|
22976768 |
2013 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
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.
|
21394825 |
2011 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.
|
21831683 |
2011 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
|
19396826 |
2009 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK.
|
18796143 |
2008 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
|
0.730 |
GeneticVariation |
BEFREE |
The premature stop codons Q70X and W402X are two of the most common alpha-l-iduronidase gene (IDUA) mutations accounting for up to 70% of MPS I disease alleles in some populations.
|
15081804 |
2004 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
|
11735025 |
2001 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.
|
9787109 |
1998 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online.
|
10215409 |
1998 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mutations among Italian mucopolysaccharidosis type I patients.
|
9427149 |
1997 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
|
8680403 |
1995 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
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.
|
7951228 |
1994 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
|
0.730 |
GeneticVariation |
BEFREE |
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.
|
7951228 |
1994 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.
|
8401515 |
1993 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
|
0.730 |
GeneticVariation |
BEFREE |
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.
|
1301941 |
1992 |
|
rs121965020
|
IDUA;SLC26A1
|
Mucopolysaccharidosis I
|
T |
0.730 |
CausalMutation |
CLINVAR |
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.
|
1301941 |
1992 |