Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types.

doi:10.1002/jbmr.3580

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Article

Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Dec 2018

Roca-Ayats Neus, Ng Pei Ying, Garcia-Giralt Natàlia, Falcó-Mascaró Maite, Cozar Mónica, Abril Josep Francesc, Quesada Gómez José Manuel, Prieto-Alhambra Daniel, Nogués Xavier, Dunford James E, Russell R Graham, Baron Roland, Grinberg Daniel, Balcells Susana, Díez-Pérez Adolfo

Abstract excerpt

Atypical femoral fractures (AFFs) are a rare but potentially devastating event, often but not always linked to bisphosphonate (BP) therapy. The pathogenic mechanisms underlying AFFs remain obscure, and there are no tests available that might assist in identifying those at high risk of AFF. We previously used exome sequencing to explore the genetic background of three sisters with AFFs and three additional...

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PMID: 30184270
DOI: 10.1002/jbmr.3580

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