The genetic defect in the various types of human β-galactosidase deficiency

@article{Hoeksema2004TheGD,
  title={The genetic defect in the various types of human $\beta$-galactosidase deficiency},
  author={H. Hoeksema and J. Wit and A. Westerveld},
  journal={Human Genetics},
  year={2004},
  volume={53},
  pages={241-247}
}
SummaryGene localization studies revealed the presence of two structural β-galactosidase (βGAL) loci on the human chromosomes 3 and 22 (de Wit et al., 1979). To determine the function of these genes, proliferating hybrid cell lines were isolated following fusion of fibroblasts from two different patients with a βGAL deficiency and Chinese hamster cells. The hybrids were analyzed electrophoretically and immunologically.Fibroblasts from a patient with an adult type of βGAL deficiency associated… Expand
5 Citations

Figures and Tables from this paper

References

SHOWING 1-10 OF 34 REFERENCES
Intergenic complementation after fusion of fibroblasts from different patients with beta-galactosidase deficiency.
Detection of active heteropolymeric beta-glucuronidase in hybrids between mouse cells and human fibroblasts with beta-glucuronidase deficiency.
  • C. J. Chern
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences of the United States of America
  • 1977
...
1
2
3
4
...