Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.

@article{Chakraborty1994MutationsIT,
  title={Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.},
  author={Sekhar Chakraborty and Mohammad A. Rafi and David A. Wenger},
  journal={American journal of human genetics},
  year={1994},
  volume={54 6},
  pages={1004-13}
}
Three adult patients with acid beta-galactosidase deficiency/GM1 gangliosidosis who were from two unrelated families of Scandinavian descent were found to share a common point mutation in the coding region of the corresponding gene. The patients share common clinical features, including early dysarthria, mild ataxia, and bone abnormalities. When cDNA from the two patients in family 1 was PCR amplified and sequenced, most (39/41) of the clones showed a C-to-T transition (C-->T) at nucleotide 245… CONTINUE READING
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