[Recent advances in molecular genetics of GM2 gangliosidosis].

Article

[Recent advances in molecular genetics of GM2 gangliosidosis].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1995

Wakamatsu N

Abstract excerpt

Recent advances in molecular genetics of GM2 gangliosidosis are reviewed. GM2 gangliosidosis is an autosomal recessive, neurodegenerative disease caused by a deficiency of beta-hexosaminidase (Hex, EC 3.2.1.52) A activity, resulting in accumulation of GM2 ganglioside in the lysosomes of neuronal...

Topics

Age of Onset
Animals
G(M2) Ganglioside
Gene Targeting
Hexosaminidase A
Humans
Lysosomes
Mice
Mutation
Sandhoff Disease
Tay-Sachs Disease
beta-N-Acetylhexosaminidases

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