Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +8

Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.

Robert G. Korneluk, Don J. Mahuran, Kuldeep Neote et al. · Journal of Biological Chemistry · 1986 · 177 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +13

Natural History and Inherited Disorders of a Lysosomal Enzyme, β-Hexosaminidase

Elizabeth F. Neufeld · Journal of Biological Chemistry · 1989 · 155 citations · Full text

Life Sciences, Biochemistry, Genetics +15

Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.

Richard L. Proia · Proceedings of the National Academy of Sciences · 1988 · 115 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.

Nobuaki Wakamatsu, Hirofumi Kobayashi, T. Miyatake et al. · Journal of Biological Chemistry · 1992 · 97 citations · Full text

Life Sciences, Genetics, Molecular Biology +16