GM2-gangliosidosis B1 variant: A wide geographic and ethnic distribution of the specific β-hexosaminidase α chain mutation originally identified in a puerto rican patient

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

1988 • 144 citations

Organization of the gene encoding the human beta-hexosaminidase alpha-chain.

1987 • 127 citations

Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity.

1983 • 98 citations

A splicing defect due to an exon-intron junctional mutation results in abnormal β-hexosaminidase α chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease

1988 • 85 citations

Mutation in GM2‐Gangliosidosis B1 Variant

1988 • 82 citations

A new variant of Type-AB GM2-gangliosidosis

1981 • 63 citations

The AB-variant of GM2-gangliosidosis

1980 • 51 citations

Prenatal Diagnosis of GM2 Gangliosidosis with High Residual Hexosaminidase A Activity (Variant B1; Pseudo AB Variant)

1985 • 16 citations