Variant: rs72555365 

    present in Gene: LOC107986073;GLB1
    present in Chromosome: 3
    Position on Chromosome: 33016744
    Alleles of this Variant: G/A

rs72555365 in LOC107986073;GLB1 gene and Mucopolysaccharidosis type IVB PMID 1928092 1991 Human beta-galactosidase gene mutations in morquio B disease.

PMID 7586649 1995 Clinical and molecular analysis of a Japanese boy with Morquio B disease.

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

PMID 17664528 2007 Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.

PMID 11511921 2001 Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

PMID 16941474 2006 Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.

PMID 16538002 2006 Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.

PMID 12393180 2002 Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease.