Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

@article{Santamara2007IdentificationO1,
  title={Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.},
  author={Ra{\"u}l Santamar{\'i}a and Mariana Blanco and Amparo Chab{\'a}s and Daniel Grinberg and Luisa Vilageliu},
  journal={Clinical genetics},
  year={2007},
  volume={71 3},
  pages={273-9}
}
GM1 gangliosidosis is a lysosomal storage disorder caused by the absence or reduction of lysosomal beta-galactosidase activity because of mutations in the GLB1 gene. Three major clinical forms have been established: type I (infantile), type II (late infantile/juvenile) and type III (adult). A mutational analysis was performed in 19 patients with GM1 gangliosidosis from South America, mainly from Argentina. Two of them were of Gypsy origin. Main clinical findings of the patients are presented… CONTINUE READING

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