Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.

@article{Boustany1993MutationsIA,
  title={Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.},
  author={Rose Mary N. Boustany and Wen Hua Qian and Kunihiko Kaneko Junji Suzuki},
  journal={American journal of human genetics},
  year={1993},
  volume={53 4},
  pages={
          881-8
        }
}
We describe four new mutations in the beta-galactosidase gene. These are the first mutations causing infantile and juvenile GM1-gangliosidosis to be described in American patients. Cell lines from two patients with juvenile and from six patients with infantile GM1-gangliosidosis were analyzed. Northern blot analysis showed the acid beta-galactosidase message to be of normal size and quantity in two juvenile and four infantile cases and of normal size but reduced quantity in two infantile cases… CONTINUE READING

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