Molecular study of chromosome 15 in 22 patients with Angelman syndrome

@article{Beuten1993MolecularSO,
  title={Molecular study of chromosome 15 in 22 patients with Angelman syndrome},
  author={Joke Beuten and Kathelijne Mangelschots and I. M. Buntinx and Paul J Coucke and Oebele F. Brouwer and Raoul C Hennekam and Christine Van Broeckhoven and Patrick J. Willems},
  journal={Human Genetics},
  year={1993},
  volume={90},
  pages={489-495}
}
DNA studies in 22 families with Angelman syndrome (AS) were performed using the chromosome 15 marker loci D15S9, D15S10, D15S11, D15S12, D15S13, D15S18, D15S24, D15S86, the alpha-actin gene and the GABA β3 receptor gene (GABRB3). Uniparental disomy of chromosome 15 was excluded in all patients. Eighteen AS patients (82%) showed a molecular deletion of… CONTINUE READING