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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,...
Autores principales: | Subramanian, Hariharan, Döring, Frank, Kollert, Sina, Rukoyatkina, Natalia, Sturm, Julia, Gambaryan, Stepan, Stellzig-Eisenhauer, Angelika, Meyer-Marcotty, Philipp, Eigenthaler, Martin, Wischmeyer, Erhard |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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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 |
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