Molecular basis of an adult form of Sandhoff disease: Substitution of glutamine for arginine at position 505 of the β-chain of β-hexosaminidase results in a labile enzyme-Reference-Cited by-同舟云学术

Molecular basis of an adult form of Sandhoff disease: Substitution of glutamine for arginine at position 505 of the β-chain of β-hexosaminidase results in a labile enzyme

Published:1993-09 Issue:2 Volume:1182 Page:142-146
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Bolhuis Pieter A.,Ponne Nico J.,Bikker Hennie,Baas Frank,de Jong J.M.B.Vianney

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference35 articles.

1. Natural History and Inherited Disorders of a Lysosomal Enzyme, β-Hexosaminidase

2. The Metabolic Basis of Inherited Disease;Sandhoff,1989

3. Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).

4. Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis

5. Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.

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