1.
Chinese Journal of Endocrinology and Metabolism
;
(12): 973-975, 2010.
Artigo
em Chinês
| WPRIM
| ID: wpr-385913
RESUMO
The methylation status of GNAS1 gene in pseudohypoparathyroidism type Ib patients was detected by methylation-specific PGR technique. There was an abnormal methylation of 1A region in all seven PHPIb patients. Loss of exon 1A methylation (imprinting defect) seems to be the cause of PHPIb.