Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.

@article{Bishop1988StructuralOO,
  title={Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.},
  author={David F. Bishop and Ruth Kornreich and Robert J Desnick},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1988},
  volume={85 11},
  pages={3903-7}
}
Human alpha-galactosidase A (alpha-D-galactoside galactohydrolase; EC 3.2.1.22) is a lysosomal hydrolase encoded by a gene localized to the chromosomal region Xq22. The deficient activity of this enzyme results in Fabry disease, an X chromosome-linked recessive disorder that leads to premature death in affected males. For studies of the structure and function of alpha-galactosidase A and for characterization of the genetic lesions in families with Fabry disease, the full-length cDNA was… CONTINUE READING
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