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Functional characterization of a GGPPS variant identified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell types

Abstract:

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 unrelated AFF cases, all previously treated with BPs. We detected 37 rare mutations (in ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1002/jbmr.3580

Authors


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Ministry of Economy and Competitiveness More from this funder
Carlos III Institute of Health More from this funder
Catalan Government More from this funder
European Regional Development Fund More from this funder
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Publisher:
Wiley Publisher's website
Journal:
Journal of Bone and Mineral Research Journal website
Publication date:
2018-09-05
Acceptance date:
2018-08-26
DOI:
EISSN:
1523-4681
ISSN:
0884-0431
Pubs id:
pubs:911998
URN:
uri:bec0edce-ed07-4bca-8f78-1ac1c199ba59
UUID:
uuid:bec0edce-ed07-4bca-8f78-1ac1c199ba59
Local pid:
pubs:911998
Language:
English
Keywords:

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