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https://www.um.edu.mt/library/oar/handle/123456789/93261| Title: | Effect of the zinc finger protein 384 (ZNF384) in a family with osteoporosis |
| Authors: | Formosa, Melissa Marie Palazzo, Dalila Formosa, Robert Carola Zillikens, M. Uitterlinden, André G. Rivadeneira, Fernando Verkerk, Annemieke J. M. H. Xuereb-Anastasi, Angela |
| Keywords: | Osteoporosis -- Genetic aspects Osteoporosis -- Malta Wnt pathway Osteoporotic fractures Bone morphogenetic proteins |
| Issue Date: | 2018 |
| Publisher: | Springer Nature Switzerland AG |
| Citation: | Formosa, M. M., Palazzo, D., Formosa, R., Zillikens, M. C., Uitterlinden, A. G., Rivadeneira, F., ... Xuereb-Anastasi, A. (2018). Effect of the zinc finger protein 384 (ZNF384) in a family with osteoporosis. Calcified Tissue International, 102, S081. |
| Abstract: | OBJECTIVES: Osteoporosis is a skeletal disease having a strong
genetic basis. The aim of the study was to identify the genetic cause
of a highly penetrant form of osteoporosis in an extended Maltese
family. METHODS: A 3-generation family of 29 relatives aged from 21 to 81 years was recruited. Osteoporosis was defined by lumbar and hip T-scores and Z-scores derived from DXA measurements. A genome- wide linkage scan followed by exome sequencing was performed. Pre-mRNA splicing aberrance was tested using an exon-trapping vector transfected in SAOS2 and hFOB cells. [excerpt] |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/93261 |
| Appears in Collections: | Scholarly Works - FacHScABS |
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| File | Description | Size | Format | |
|---|---|---|---|---|
| ECTS2018_Effect of the Zinc Finger Protein 384 (ZNF384) in a family with osteoporosi.pdf Restricted Access | 756.1 kB | Adobe PDF | View/Open Request a copy |
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