Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gsα gene

@article{Shapira1996PseudohypoparathyroidismTI,
  title={Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gsα gene},
  author={Hagit Shapira and M R A Mouallem and Menachem S. Shapiro and Yosef Weisman and Zvi Farfel},
  journal={Human Genetics},
  year={1996},
  volume={97},
  pages={73-75}
}
Pseudohypoparathyroidism type Ia (PHP-Ia) is a hereditary disease characterized by resistance to PTH and other hormones that act via cAMP. Patients have deficient activity of Gsα, the α subunit of the G protein, which couples hormone receptors to stimulation of adenylate cyclase. We describe two new mutations discovered in two sporadic patients with PHP-Ia. Using genomic DNA, we have amplified exons 2–13 of the Gsα gene (GNAS1) by PCR, and sequenced the resulting products. Both patients had… CONTINUE READING
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