A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

JOURNAL OF CLINICAL INVESTIGATION, pp. 1167-1174, 2000.

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Keywords:
gene expressionallelesgenotypedna primersexonsMore(1+)

Abstract:

Pseudohypoparathyroidism type IB (PHPIB) is characterized by renal resistance to parathyroid hormone (PTH) and the absence of other endocrine or physical abnormalities. Familial PHPIB has been mapped to 20q13, near GNAS1, which encodes G(s)alpha, the G protein alpha -subunit required for receptor-stimulated cAMP generation. However, G(s)a...More

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