Variant: rs564428355 

    present in Gene: GLB1;LOC107986073
    present in Chromosome: 3
    Position on Chromosome: 33018470
    Alleles of this Variant: C/T

rs564428355 in GLB1;LOC107986073 gene and Gangliosidosis GM1 PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

PMID 27679996 2016 Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

PMID 18571950 2009 "The potential action of galactose as a ""chemical chaperone"": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient."

PMID 16314480 2005 Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

rs564428355 in GLB1;LOC107986073 gene and Gangliosidosis, Generalized GM1, Type 1 (disorder) PMID 27679996 2016 Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

PMID 21520340 2011 Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

PMID 19472408 2009 GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

PMID 16314480 2005 Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

PMID 20175788 2010 Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

rs564428355 in GLB1;LOC107986073 gene and Gangliosidosis, Generalized GM1, Type 2 PMID 27679996 2016 Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

PMID 20175788 2010 Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

PMID 21520340 2011 Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

PMID 19472408 2009 GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

PMID 16314480 2005 Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

rs564428355 in GLB1;LOC107986073 gene and Gangliosidosis, Generalized GM1, Type 3 PMID 16314480 2005 Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

PMID 19472408 2009 GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

PMID 27679996 2016 Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

PMID 21520340 2011 Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

PMID 20175788 2010 Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

rs564428355 in GLB1;LOC107986073 gene and Mucopolysaccharidosis type IVB PMID 21520340 2011 Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

PMID 16314480 2005 Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

PMID 19472408 2009 GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

PMID 27679996 2016 Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

PMID 20175788 2010 Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

PMID 18571950 2009 "The potential action of galactose as a ""chemical chaperone"": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient."