# 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}
}
• Published 2004
• Biology
• Human Genetics
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
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