A Novel Deletion Involving the First&nbsp; <i>GNAS</i>&nbsp;Exon Encoding&nbsp;Gsα Causes PHP1A Without Methylation Changes&nbsp;At Exon A/B

Author:

Campbell Devon,Reyes Monica,Kaygusuz Sare Betul,Abali Saygın,Guran Tulay,Bereket Abdullah,Kagami Masayo,Turan Serap,Juppner Harald

Publisher

Elsevier BV

Subject

General Earth and Planetary Sciences,General Environmental Science

Reference19 articles.

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2. Pseudohypoparathyroidism: defective excretion of 3',5'-AMP in response to parathyroid hormone;L R Chase;J Clin Invest,1969

3. Pseudohypoparathyroidism: assays of parathyroid hormone and thyrocalcitonin;A H Tashjian;Proc Natl Acad Sci,1966

4. Defect of receptor-cyclase coupling protein in pseudohypoparathyroidism;Z Farfel;N Engl J Med,1980

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

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