Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction

BACKGROUND: Pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of hormones that activate Gsalpha, encoded by the imprinted GNAS gene. PHP-Ib patients have isolated Parathormone (PTH) resistance and GNAS epigenetic def...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Izzi, Benedetta, Francois, Inge, Labarque, Veerle, Thys, Chantal, Wittevrongel, Christine, Devriendt, Koen, Legius, Eric, Van den Bruel, Annick, D'Hooghe, Marc, Lambrechts, Diether, de Zegher, Francis, Van Geet, Chris, Freson, Kathleen
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2012
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3367970/
https://ncbi.nlm.nih.gov/pubmed/22679513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0038579
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