Article
Pseudohypoparathyroidism. New insights into an old disease.
Endocrinology and metabolism clinics of North America - 1 Sept 2000
Bastepe M, Jüppner H
Abstract excerpt
The GNAS1 gene (chromosome 20q13.3) encodes the alpha subunit of the stimulatory G protein (Gs alpha) and at least three additional, alternatively spliced transcripts, XL alpha s, NESP55, and the antisense transcript AS. Gs alpha transcripts seem to be derived exclusively, at least in the renal cortex, from the maternal allele. XL alpha s and AS are transcribed only from the paternal allele, and NESP55 is...
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