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Deletion of the Noncoding GNAS Antisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects of GNAS Methylation in cis

Context: GNAS encodes the α-subunit of the stimulatory G protein as well as additional imprinted transcripts including the maternally expressed NESP55 and the paternally expressed XLαs, antisense, and A/B transcripts. Most patients with pseudohypoparathyroidism type Ib (PHP-Ib) exhibit imprinting de...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Chillambhi, Smitha, Turan, Serap, Hwang, Daw-Yang, Chen, Hung-Chun, Jüppner, Harald, Bastepe, Murat
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Endocrine Society 2010
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2913043/
https://ncbi.nlm.nih.gov/pubmed/20444925
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-2205
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