GNAS1 mutational analysis in pseudohypoparathyroidism.

OBJECTIVE: Mutations of the GNAS1 gene, which is located on chromosome 20q13.11 and encodes the alpha-subunit of the stimulatory GTP-binding protein, have been identified in patients with pseudohypoparathyroidism type Ia (PHPIa) and pseudopseudohypoparathyroidism (PPHP). We have undertaken studies t...

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Bibliographic Details
Main Authors: Ahmed, S, Dixon, P, Bonthron, D, Stirling, H, Barr, D, Kelnar, C, Thakker, R
Format: Journal article
Language:English
Published: 1998