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Activating and Inactivating Mutations in the GNAS1 Gene

  1. Micheala A Aldred,
  2. Richard C Trembath

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0006023

Book Title

eLS

eLS

Additional Information

How to Cite

Aldred, M. A. and Trembath, R. C. 2006. Activating and Inactivating Mutations in the GNAS1 Gene. eLS. .

Author Information

  1. University of Leicester, Leicester, UK

Publication History

  1. Published Online: 27 JAN 2006
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Abstract

GNAS is a complex locus encoding multiple overlapping transcripts. Several human diseases are caused by activating or inactivating mutations, or by abnormal methylation at this locus.

Keywords:

  • G protein;
  • mutation;
  • imprinting;
  • oncogene;
  • Gsα
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