An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II.

@article{Tappino2008AnAI,
  title={An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II.},
  author={Barbara Tappino and Stefano Regis and Fabio Corsolini and Mirella Filocamo},
  journal={Molecular genetics and metabolism},
  year={2008},
  volume={93 2},
  pages={129-33}
}
Mucolipidosis type II (ML II) is a fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features. ML II results from mutations in alpha and beta subunits, encoded by the GlcNAc-1-phosphotransferase gene (GNPTAB). Most of the 40 different GNPTAB mutations reported so far are insertions and deletions predicting diverse types of aberrant proteins. Alu mobile elements have however never been involved in these events up to now. The Italian ML II… CONTINUE READING

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