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- Title
Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?
- Authors
Fernández-Rebollo, Eduardo; Pérez de Nanclares, Guiomar; Lecumberri, Beatriz; Turan, Serap; Anda, Emma; Pérez-Nanclares, Gustavo; Feig, Denice; Nik-Zainal, Serena; Bastepe, Murat; Jüppner, Harald
- Abstract
The article presents a study on the genetic analysis of microdeletions upstream of GNAS of patients with autosomal dominant pseudohypoparathyroidism type lb (AD-PHP-lb). It discusses details of the molecular studies performed to discover the mode of inheritance of the disease. It explores the significance of the research on studies of disorders associated with methylation abnormality.
- Subjects
PSEUDOHYPOPARATHYROIDISM; METHYLATION; GENETIC disorders; GENETICS; MOLECULES; PHYSIOLOGY
- Publication
Journal of Bone & Mineral Research, 2011, Vol 26, Issue 8, p1854
- ISSN
0884-0431
- Publication type
Article
- DOI
10.1002/jbmr.408