An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome.

@article{Shenker1994AnAG,
  title={An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome.},
  author={Andrew Shenker and Lee S. Weinstein and Donald E. Sweet and Allen M. Spiegel},
  journal={The Journal of clinical endocrinology and metabolism},
  year={1994},
  volume={79 3},
  pages={750-5}
}
McCune-Albright syndrome (MAS) is a sporadic disease characterized by polyostotic fibrous dysplasia, café-au-lait spots, and multiple endocrinopathies. The etiology of fibrous dysplasia is unknown. Activating mutations of codon 201 in the gene encoding the alpha-subunit of Gs, the G-protein that stimulates adenylyl cyclase, have been found in all affected MAS tissues that have been studied. Initial attempts to amplify DNA from decalcified paraffin-embedded bone specimens from MAS patients were… CONTINUE READING
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