Two variant hexosaminidase β-chain alleles segregating in a South African family
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference18 articles.
1. Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component
2. ENZYME ALTERATIONS AND LIPID STORAGE IN THREE VARIANTS OF TAY-SACHS DISEASE
3. Subunit structure of human hexosaminidase verified: interconvertibility of hexosaminidase isozymes
4. Purification and chemical characterization of human hexosaminidases A and B
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1. Multiple forms of membrane-bound β-glucosidase in Gaucher's disease;Clinical Genetics;2008-04-23
2. Tay-Sachs Disease Carrier Screening: A Model for Prevention of Genetic Disease;Genetic Testing;1998-01
3. Molecular basis of heat labile hexosaminidase B among Jews and Arabs;Human Mutation;1997
4. Substitution of Alanine543 with a Threonine Residue at the Carboxy Terminal End of the β-Chain Is Associated with Thermolabile Hexosaminidase B in a Jewish Family of Oriental Ancestry;Biochemical and Molecular Medicine;1995-10
5. Detection of Tay-Sachs Disease Carriers among Individuals with Thermolabile Hexosaminidase B;Clinical Chemistry and Laboratory Medicine;1994
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