Article
New mutation type in pseudohypoparathyroidism type Ia.
Clinical endocrinology - 1 Nov 2008
Fernandez-Rebollo Eduardo, Barrio Raquel, Pérez-Nanclares Gustavo, Carcavilla Atilano, Garin Intza, Castaño Luis, de Nanclares Guiomar Pérez
Abstract excerpt
CONTEXT: The GNAS gene encodes the alpha-subunit of the stimulatory G proteins, which play a crucial role in intracellular signal transduction of peptide and neurotransmitter receptors. Heterozygous inactivating maternally inherited mutations of GNAS (including translation initiation mutations, amino acid substitutions, nonsense mutations, splice site mutations and small insertions or deletions) lead to a...
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