Benign HEXA Mutations, C739T(R247W) and C745T(R249W), Cause β-Hexosaminidase A Pseudodeficiency by Reducing the α-Subunit Protein Levels
Open Access
- 1 June 1997
- journal article
- Published by Elsevier BV in Online Journal of Public Health Informatics
- Vol. 272 (23), 14975-14982
- https://doi.org/10.1074/jbc.272.23.14975
Abstract
No abstract availableThis publication has 28 references indexed in Scilit:
- Segregation within a family of two mutant alleles for hexosaminidase AClinical Genetics, 2008
- Tay-Sachs Disease— Carrier Screening, Prenatal Diagnosis, and the Molecular EraJAMA, 1993
- Activator proteins and topology of lysosomal sphingolipid catabolismBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1992
- A mutation common in non-jewish Tay-Sachs disease: Frequency and RNA studiesHuman Mutation, 1992
- Hexosaminidase A deficiency in adultsAmerican Journal of Medical Genetics, 1986
- Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain.Proceedings of the National Academy of Sciences of the United States of America, 1985
- Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase.Proceedings of the National Academy of Sciences of the United States of America, 1985
- Nonuniform Deficiency of Hexosaminidase A in Tissues and Fluids of Two Unrelated IndividualsPediatric Research, 1982
- Purification and Characterization of an Activator Protein for the Degradation of Glycolipids GM2and GA2by Hexosaminidase AHoppe-Seyler´s Zeitschrift für physiologische Chemie, 1979
- [117] Thermal fractionation of serum hexosaminidases: Applications to heterozygote detection and diagnosis of Tay-Sach's diseasePublished by Elsevier BV ,1972