A beta-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis.
Suzuki
Y
Y
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
Oshima
A
A
D016537:Gangliosidosis, GM1 / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000235:genetics; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D017354:Point Mutation; D001616:beta-Galactosidase / Q000172:deficiency* / Q000235:genetics*
D001616:beta-Galactosidase