Open AccessIntragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B
Author(s) -
Eduardo FernándezRebollo,
Beatriz GarcíaCuartero,
Intza Garin,
Cristina Largo,
Francisco Martı́nez,
Concepción García-Lacalle,
Luís Castaño,
Murat Bastepe,
Guiomar Pérez de Nanclares
Publication year - 2010
Publication title -
molecular endocrinology
Language(s) - English
Resource type - Journals
eISSN - 1944-9917
pISSN - 0888-8809
DOI - 10.1210/mend.24.1.9996
Subject(s) - gnas complex locus , pseudohypoparathyroidism , biology , exon , genetics , methylation , endocrinology , medicine , microbiology and biotechnology , gene , parathyroid hormone , calcium
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