rs121965021
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
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
rs121965027
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
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
rs121965033
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
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
rs121965021
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
15300847
2004
rs121965027
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
15300847
2004
rs121965033
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
15300847
2004
rs121965021
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.
12559846
2003
rs121965027
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.
12559846
2003
rs121965033
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.
12559846
2003
rs121965021
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S.
10735634
2000
rs121965027
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S.
10735634
2000
rs121965033
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S.
10735634
2000
rs121965021
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.
10466419
1999
rs121965027
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.
10466419
1999
rs121965033
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.
10466419
1999
rs121965021
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).
7550232
1995
rs121965021
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.
7550242
1995
rs121965027
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).
7550232
1995
rs121965027
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.
7550242
1995
rs121965033
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).
7550232
1995
rs121965033
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.
7550242
1995
rs121965021
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.
8401515
1993
rs121965027
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.
8401515
1993
rs121965033
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
0.800
GeneticVariation
UNIPROT
Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.
8401515
1993
rs121965021
×
Entrez Id:
3425
Gene Symbol:
IDUA
IDUA
Hurler-Scheie Syndrome
G
0.800
CausalMutation
CLINVAR