Molecular and clinical characterization of Angelman syndrome in Chinese patients.

@article{Bai2014MolecularAC,
  title={Molecular and clinical characterization of Angelman syndrome in Chinese patients.},
  author={J Bai and Y-J Qu and Y Jin and Hongmei Wang and Y. Yang and Y Jiang and X-Y Yang and L P Zou and Fang Song},
  journal={Clinical genetics},
  year={2014},
  volume={85 3},
  pages={273-7}
}
Angelman syndrome (AS) is a neurobehavioral disorder caused by lack of function of the maternal copy of the ubiquitin-protein ligase E3A (UBE3A) gene. In our study, 49 unrelated patients with classic AS phenotypes were confirmed by methylation-specific PCR (MS-PCR) analysis, short tandem repeat linkage analysis, and mutation screening of the UBE3A gene. Among the Chinese AS patients, 83.7% (41/49) had deletions on maternal chromosome 15q11.2-13. Paternal uniparental disomy, imprinting defects… CONTINUE READING
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