Article
Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.
Journal of medical genetics - 1 Apr 1996
Ribeiro M G, Sonin T, Pinto R A, Fontes A, Ribeiro H, Pinto E, Palmeira M M, Sá Miranda M C
Abstract excerpt
Mutations in the hexosaminidase A gene (HEXA) causing the B1 variant of GM2-gangliosidosis result in the presence of a mutant enzyme protein with a catalytically defective alpha subunit. A rare and panethnically distributed mutation, transition G533A (Arg178His), is known to be a common allele among Portuguese patients with the subacute phenotype. We now report the presence of an Arg178His allele in three...
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