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PTH1R Mutants Found in Patients with Primary Failure of Tooth Eruption Disrupt G-Protein Signaling

AIM: Primary failure of tooth eruption (PFE) is causally linked to heterozygous mutations of the parathyroid hormone receptor (PTH1R) gene. The mutants described so far lead to exchange of amino acids or truncation of the protein that may result in structural changes of the expressed PTH1R. However,...

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Detalles Bibliográficos
Autores principales: Subramanian, Hariharan, Döring, Frank, Kollert, Sina, Rukoyatkina, Natalia, Sturm, Julia, Gambaryan, Stepan, Stellzig-Eisenhauer, Angelika, Meyer-Marcotty, Philipp, Eigenthaler, Martin, Wischmeyer, Erhard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5127517/
https://www.ncbi.nlm.nih.gov/pubmed/27898723
http://dx.doi.org/10.1371/journal.pone.0167033