rs754154200
|
|
Pfaundler-Hurler Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.
|
24036510 |
2013 |
rs754154200
|
|
Pfaundler-Hurler Syndrome
|
|
0.700 |
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 |
rs754154200
|
|
Pfaundler-Hurler Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
|
19396826 |
2009 |
rs754154200
|
|
Pfaundler-Hurler Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
|
15300847 |
2004 |
rs754154200
|
|
Pfaundler-Hurler Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.
|
12559846 |
2003 |
rs754154200
|
|
Pfaundler-Hurler Syndrome
|
|
0.700 |
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 |
rs754154200
|
|
Pfaundler-Hurler Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.
|
10466419 |
1999 |
rs754154200
|
|
Pfaundler-Hurler Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).
|
7550232 |
1995 |
rs754154200
|
|
Pfaundler-Hurler Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.
|
7550242 |
1995 |
rs754154200
|
|
Pfaundler-Hurler Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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 |
rs754154200
|
|
Pfaundler-Hurler Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.
|
8019563 |
1994 |
rs754154200
|
|
Pfaundler-Hurler Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.
|
8401515 |
1993 |
rs754154200
|
|
Pfaundler-Hurler Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.
|
8328452 |
1993 |
rs754154200
|
|
Pfaundler-Hurler Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
|
1301941 |
1992 |