Article
A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency.
The Journal of clinical endocrinology and metabolism - 1 May 2007
Thiele Susanne, Werner Ralf, Ahrens Wiebke, Hoppe Ute, Marschke Christine, Staedt Pia, Hiort Olaf
Abstract excerpt
OBJECTIVE: The GNAS gene encodes the alpha-subunit of stimulatory G proteins, which play a crucial role in intracellular signal transduction of peptide and neurotransmitter receptors. In addition to transcript variants that differ in their first exon due to different promoters, there are two long (Gsalpha-L) and two short (Gsalpha-S) splice variants, created by alternative splicing. Heterozygous inactivating...
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