Genetics of Pseudohypoparathyroidism Types Ia and Ic
Author:
Publisher
Walter de Gruyter GmbH
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Link
https://www.degruyter.com/document/doi/10.1515/JPEM.2006.19.S2.635/pdf
Reference35 articles.
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5. Isolation and characterization of the human Gs alpha gene.
Cited by 8 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo‐pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene;Molecular Genetics & Genomic Medicine;2014-12-04
2. 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;The Journal of Clinical Endocrinology & Metabolism;2014-08-01
3. Different Biochemical Properties Explain Why Two Equivalent Gα Subunit Mutants Cause Unrelated Diseases;Journal of Biological Chemistry;2014-08
4. Endocrine Profile and Phenotype-(Epi)Genotype Correlation in Spanish Patients with Pseudohypoparathyroidism;The Journal of Clinical Endocrinology & Metabolism;2013-05-01
5. Screening for Parathyroid Hormone Resistance In Patients With Nonphenotypically Evident Pseudohypoparathyroidism;Endocrine Practice;2012-11
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