Different Pattern of Epigenetic Changes of theGNASGene Locus in Patients With Pseudohypoparathyroidism Type Ic Confirm the Heterogeneity of Underlying Pathomechanisms in This Subgroup of Pseudohypoparathyroidism and the Demand for a New Classification ofGNAS-Related Disorders-Reference-Cited by-同舟云学术

Different Pattern of Epigenetic Changes of theGNASGene Locus in Patients With Pseudohypoparathyroidism Type Ic Confirm the Heterogeneity of Underlying Pathomechanisms in This Subgroup of Pseudohypoparathyroidism and the Demand for a New Classification ofGNAS-Related Disorders

Published:2014-08-01 Issue:8 Volume:99 Page:E1564-E1570
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Brix Bettina¹,Werner Ralf¹,Staedt Pia¹,Struve Dagmar¹,Hiort Olaf¹,Thiele Susanne¹

Affiliation:

1. Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lübeck, 23538 Lübeck, Germany

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/99/8/E1564/9047442/jcem1564.pdf

Reference40 articles.

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2. Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations;Elli;Hum Mutat,2013

3. Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism;Levine;Biochem Biophys Res Commun,1980

4. Genetic deficiency of the α subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy;Levine;Proc Natl Acad Sci USA,1988

5. GNAS defects identified by stimulatory G protein α-subunit signalling studies in platelets;Freson;J Clin Endocrinol Metab,2008

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