M H Klavins

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

Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).

Brian F. O’Dowd, M H Klavins, H.F. Willard et al. · Journal of Biological Chemistry · 1986 · 87 citations · Full text

Life Sciences, Cell Biology, Genetics +7

Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits.

Don J. Mahuran, Kuldeep Neote, M H Klavins et al. · Journal of Biological Chemistry · 1988 · 79 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

Beth McInnes, Nobuaki Wakamatsu, S. Melançon et al. · Journal of Clinical Investigation · 1992 · 58 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency

Michael Rubin, George Karpati, Leonhard S. Wolfe et al. · Journal of the Neurological Sciences · 1988 · 40 citations

Medicine, Neurology, Neuroscience +15