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OR21-3 Spatial Signaling Bias of a Gain-of-Function PTH1R Mutant Associated with Delayed Ossification in Eiken Syndrome
Skeletal development is orchestrated by the interaction of the parathyroid hormone related peptide (PTHrP) with the parathyroid hormone receptor type 1 (PTH1R). Knock-out or severe deficiency of either PTH1R or PTHrP by homozygous loss-of-function mutations results in premature hypertrophy of chondr...
Autores principales: | Dean, Thomas, Gardella, Thomas, Jüppner, Harald, Savransky, Sophia, Vilardaga, Jean-Pierre, Portales-Castillo, Ignacio |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9624661/ http://dx.doi.org/10.1210/jendso/bvac150.400 |
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