Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

@article{Bernstein1989FabryDS,
  title={Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.},
  author={Harold S Bernstein and David F. Bishop and Kenneth H. Astrin and Ruth Kornreich and Christine M. Eng and Hitoshi Sakuraba and Robert J Desnick},
  journal={The Journal of clinical investigation},
  year={1989},
  volume={83 4},
  pages={1390-9}
}
Fabry disease, an X-linked recessive disorder of glycosphingolipid catabolism, results from the deficient activity of the lysosomal hydrolase, alpha-galactosidase. Southern hybridization analysis of the alpha-galactosidase gene in affected hemizygous males from 130 unrelated families with Fabry disease revealed six with different gene rearrangements and one with an exonic point mutation resulting in the obliteration of an Msp I restriction site. Five partial gene deletions were detected ranging… CONTINUE READING

Connections & Topics

Mentioned Connections BETA
Fabry disease : six gene rearrangements and an exonic point mutation in the alpha - galactosidase gene .
Fabry disease , an X - linked recessive disorder of glycosphingolipid catabolism , results from the deficient activity of the lysosomal hydrolase , alpha - galactosidase .
Southern hybridization analysis of the alpha - galactosidase gene in affected hemizygous males from 130 unrelated families with Fabry disease revealed six with different gene rearrangements and one with an exonic point mutation resulting in the obliteration of an Msp I restriction site .
Southern hybridization analysis of the alpha - galactosidase gene in affected hemizygous males from 130 unrelated families with Fabry disease revealed six with different gene rearrangements and one with an exonic point mutation resulting in the obliteration of an Msp I restriction site .
Fabry disease : six gene rearrangements and an exonic point mutation in the alpha - galactosidase gene .
Fabry disease , an X - linked recessive disorder of glycosphingolipid catabolism , results from the deficient activity of the lysosomal hydrolase , alpha - galactosidase .
Fabry disease , an X - linked recessive disorder of glycosphingolipid catabolism , results from the deficient activity of the lysosomal hydrolase , alpha - galactosidase .
Fabry disease , an X - linked recessive disorder of glycosphingolipid catabolism , results from the deficient activity of the lysosomal hydrolase , alpha - galactosidase .
All Topics