GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.

Peleg, L; Meltzer, F; Karpati, M; Goldman, B

Peleg, L; Meltzer, F; Karpati, M; Goldman, B.

Affiliation

Peleg L; Genetic Institute, Chaim Sheba Medical Center, Tel Hashomer, Israel.

Biochem Mol Med ; 54(2): 126-32, 1995 Apr.

Article in En | MEDLINE | ID: mdl-8581357

Subject(s)

Tay-Sachs Disease/enzymology; beta-N-Acetylhexosaminidases/chemistry; beta-N-Acetylhexosaminidases/physiology; Base Sequence; Cells, Cultured; Exons; Female; Fibroblasts/cytology; Fibroblasts/enzymology; Hexosaminidase A; Humans; Kinetics; Male; Molecular Sequence Data; Mutation; Polymorphism, Single-Stranded Conformational; Tay-Sachs Disease/etiology; Tay-Sachs Disease/genetics; beta-N-Acetylhexosaminidases/antagonists & inhibitors

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Database: MEDLINE Main subject: Tay-Sachs Disease / Beta-N-Acetylhexosaminidases Type of study: Etiology_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Year: 1995 Type: Article

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