Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients.

@article{Serra2007TumorLA,
  title={Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients.},
  author={Eduard Serra and Eva Pros and Carles Garc{\'i}a and Eva L{\'o}pez and Margalida Gili and Carolina G{\'o}mez and Anna Ravella and G. Capella and Ignacio Blanco and Conxi L{\'a}zaro},
  journal={Genes, chromosomes & cancer},
  year={2007},
  volume={46 9},
  pages={820-7}
}
The neurofibromatosis type 1 gene has one of the highest mutation rates in humans: about 50% of NF1 patients are de novo cases. Although direct mutation characterization has greatly improved over the past decade, in the context of clinical genetics services worldwide, there is still a significant number of patients for which, while fulfilling NF1 clinical criteria, no constitutive mutation is found at a desired time. This is particularly critical for prenatal genetic testing of sporadic cases… CONTINUE READING

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