Citations for
1GLB1, MPS4B
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hofer D, Paul K, Fantur K, Beck M, Bürger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E.
Hum Mutat 30(8):1214-21.PMID: 19472408 2009
2GLB1, MPS4B
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.
Paschke E, Milos I, Kreimer-Erlacher H, Hoefler G, Beck M, Hoeltzenbein M, Kleijer W, Levade T, Michelakakis H, Radeva B.
Hum Genet 109(2):159-66. 2001
3GLB1, MPS4B
Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.
Hinek A, Zhang S, Smith AC, Callahan JW.
Am J Hum Genet 67(1):23-36. Epub 2000 Jun 6. 2000
4GLB1, MPS4B, CTSA
Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.
Callahan JW.
Biochim Biophys Acta 1455(2-3):85-103. Review 1999
5GLB1, MPS4B
A beta-galactosidase gene mutation identified in both Morquio B disease and infantile Gm1 gangliosidosis.
Suzuki Y, et al.
Hum Genet 91 : 407. 1993
6MPS4B
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.
Mosna G, et al.
Hum Genet 90 : 247-250. 1992
7GLB1, MPS4B
Human beta-galactosidase gene mutations in Morquio B disease.
Oshima A, et al.
Am J Hum Genet 49 : 1091-1093. 1991