Analysis of promoter methylation of GNAS1 gene in pseudohypoparathyroidism type Ib / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
;
(12): 973-975, 2010.
Article
in Chinese
| WPRIM
| ID: wpr-385913
ABSTRACT
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Endocrinology and Metabolism
Year:
2010
Type:
Article
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