[Molecular genetics of beta-galactosidase deficiency (GM1-gangliosidosis and Morquio syndrome type B)].

Article

[Molecular genetics of beta-galactosidase deficiency (GM1-gangliosidosis and Morquio syndrome type B)].

Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993

Yoshida K, Yanagisawa N

Abstract excerpt

Recent advances in the molecular study of beta-galactosidase deficiency (GM1-gangliosidosis and Morquio syndrome type B) are reviewed. Until now, 14 different mutations have been found in the beta-galactosidase gene in patients with this disorder. Gene mutations are heterogeneous, but common and...

Topics

Adolescent
Adult
Asian People
Child
Child, Preschool
Gangliosidosis, GM1
Humans
Infant
Japan
Mucopolysaccharidosis IV
Mutation
White People
beta-Galactosidase

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