Identification of additional transcripts in the Williams-Beuren syndrome critical region

@article{Merla2002IdentificationOA,
  title={Identification of additional transcripts in the Williams-Beuren syndrome critical region},
  author={Giuseppe Merla and Catherine Ucla and Michel Guipponi and Alexandre Reymond},
  journal={Human Genetics},
  year={2002},
  volume={110},
  pages={429-438}
}
Williams-Beuren syndrome (WBS) is a developmental disorder associated with haploinsufficiency of multiple genes at 7q11.23. Here, we report the characterization of WBSCR16, WBSCR17, WBSCR18, WBSCR20A, WBSCR20B, WBSCR20C, WBSCR21, WBSCR22, and WBSCR23, nine novel genes contained in the WBS commonly deleted region or its flanking sequences. They encode an RCC1-like G-exchanging factor, an N-acetylgalactosaminyltransferase, a DNAJ-like chaperone, NOL1/NOP2/sun domain-containing proteins, a… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 50 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 45 references

Towards a complete transcription map of the Williams-Beuren syndrome deletion region

  • LF Magano, M Bayes, R Flores, LA Perez Jurado
  • Eur J Hum Genet
  • 2001
Highly Influential
3 Excerpts

Similar Papers

Loading similar papers…