Published in Am J Hum Genet on August 01, 1993
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Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Am J Hum Genet (2006) 1.05
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A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis. Am J Hum Genet (1992) 1.21
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Introduction of the alpha subunit mutation associated with the B1 variant of Tay-Sachs disease into the beta subunit produces a beta-hexosaminidase B without catalytic activity. J Biol Chem (1989) 1.12
Characterization of the affinity of the G(M2) activator protein for glycolipids by a fluorescence dequenching assay. Biochim Biophys Acta (1997) 1.11
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Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency. J Neurol Sci (1988) 1.03
An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. J Clin Invest (1992) 1.01
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Improved concanavalin A-Sepharose elution by specific readsorption of glycoproteins. J Chromatogr (1983) 0.99
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The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease. Am J Hum Genet (1996) 0.87
A statistical comparison of parameter estimation for the Michaelis-Menten kinetics of human placental hexosaminidase. Can J Biochem Cell Biol (1985) 0.86
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Identification of an active acidic residue in the catalytic site of beta-hexosaminidase. Biochemistry (1996) 0.86
Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype. Biochim Biophys Acta (1996) 0.83
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Evidence for the participation of beta-hexosaminidase in human sperm-zona pellucida interaction in vitro. Mol Hum Reprod (2000) 0.82
Assessing the severity of the small inframe deletion mutation in the alpha-subunit of beta-hexosaminidase A found in the Turkish population by reproducing it in the more stable beta-subunit. J Inherit Metab Dis (2004) 0.81
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Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus. Genomics (1993) 0.80
Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease. Biochim Biophys Acta (1992) 0.79
Identification of functional domains within the alpha and beta subunits of beta-hexosaminidase A through the expression of alpha-beta fusion proteins. Biochemistry (1996) 0.79
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis. Hum Mutat (1998) 0.79
Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease. Biochim Biophys Acta (1992) 0.76
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