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PTHR1 mutations associated with Ollier disease result in receptor loss of function

PTHR1-signaling pathway is critical for the regulation of endochondral ossification. Thus, abnormalities in genes belonging to this pathway could potentially participate in the pathogenesis of Ollier disease/Maffucci syndrome, two developmental disorders defined by the presence of multiple enchondro...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Couvineau, Alain, Wouters, Vinciane, Bertrand, Guylène, Rouyer, Christiane, Gérard, Bénédicte, Boon, Laurence M., Grandchamp, Bernard, Vikkula, Miikka, Silve, Caroline
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2008
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2722890/
https://ncbi.nlm.nih.gov/pubmed/18559376
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn176
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