A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism

Hypocalcemia and hyperphosphatemia are encountered in idiopathic hypoparathyroidism (IHP) and pseudohypoparathyroidism type Ib (PHP1B). In contrast to PHP1B, which is caused by resistance toward parathyroid hormone (PTH), the genetic defects leading to IHP impair production of this important regulat...

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Vydáno v:J Bone Miner Res
Hlavní autoři: Lee, Sihoon, Mannstadt, Michael, Guo, Jun, Kim, Seul Min, Yi, Hyon-Seung, Khatri, Ashok, Dean, Thomas, Okazaki, Makoto, Gardella, Thomas J, Jüppner, Harald
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4580526/
https://ncbi.nlm.nih.gov/pubmed/25891861
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.2532
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