Molecular basis of an adult form of β-hexosaminidase B deficiency with motor neuron disease
- 27 November 1991
- journal article
- case report
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 181 (1), 108-115
- https://doi.org/10.1016/s0006-291x(05)81388-9
Abstract
No abstract availableKeywords
This publication has 15 references indexed in Scilit:
- Activator Proteins for Lysosomal Glycolipid HydrolysisPublished by Wiley ,2006
- A new point mutation within exon 5 of β‐hexosaminidase α gene in a Japanese infant with Tay‐Sachs diseaseAnnals of Neurology, 1990
- Influence of Interior Packing and Hydrophobicity on the Stability of a ProteinScience, 1989
- Report of the committee on linkage and gene orderCytogenetic and Genome Research, 1989
- Cloning and sequence analysis of a cDNA encoding the β‐subunit of mouse β‐hexosaminidaseFEBS Letters, 1988
- A Point Mutation in the Coding Sequence of the β‐Hexosaminidase α Gene Results in Defective Processing of the Enzyme Protein in an Unusual GM2‐Gangliosidosis VariantJournal of Neurochemistry, 1988
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- N‐acetyl‐β‐hexosaminidase β locus defect and juvenile motor neuron disease: A case studyAnnals of Neurology, 1986
- N-Acetyl-β-hexosaminidase B deficiency in cultured fibroblasts from a patient with progressive motor neuron diseaseBiochemical and Biophysical Research Communications, 1985
- A new variant of Type-AB GM2-gangliosidosisBiochemical and Biophysical Research Communications, 1981