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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...

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Detalles Bibliográficos
Autores principales: Dean, Thomas, Gardella, Thomas, Jüppner, Harald, Savransky, Sophia, Vilardaga, Jean-Pierre, Portales-Castillo, Ignacio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9624661/
http://dx.doi.org/10.1210/jendso/bvac150.400