|
rs755832705
|
|
Mucopolysaccharidosis, MPS-IV-A
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
|
25252036 |
2014 |
|
rs755832705
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
|
24726177 |
2014 |
|
rs755832705
|
|
Mucopolysaccharidosis, MPS-IV-A
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
|
24726177 |
2014 |
|
rs755832705
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
|
16287098 |
2005 |
|
rs755832705
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.
|
9521421 |
1998 |
|
rs755832705
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
|
9375852 |
1997 |
|
rs755832705
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.
|
9298823 |
1997 |
|
rs755832705
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.
|
8651279 |
1996 |
|
rs755832705
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
|
8826435 |
1996 |
|
rs755832705
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.
|
7795586 |
1995 |
|
rs755832705
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).
|
7581409 |
1995 |
|
rs755832705
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.
|
7668283 |
1995 |
|
rs755832705
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.
|
7633425 |
1995 |
|
rs755832705
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
|
1522213 |
1992 |
|
rs794729202
|
|
Mucopolysaccharidosis, MPS-IV-A
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
|
16287098 |
2005 |
|
rs794729202
|
|
Mucopolysaccharidosis, MPS-IV-A
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
|
9375852 |
1997 |
|
rs866745731
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
|
24726177 |
2014 |
|
rs866745731
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
|
16287098 |
2005 |
|
rs866745731
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.
|
9521421 |
1998 |
|
rs866745731
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
|
9375852 |
1997 |
|
rs866745731
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.
|
9298823 |
1997 |
|
rs866745731
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
|
8826435 |
1996 |
|
rs866745731
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.
|
8651279 |
1996 |
|
rs866745731
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).
|
7581409 |
1995 |
|
rs866745731
|
|
Mucopolysaccharidosis, MPS-IV-A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.
|
7668283 |
1995 |