Attenuated clinical and osteoclastic phenotypes of Paget's disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 gene
Abstract Background We identified two families with Paget's disease of bone (PDB) linked to the p.Pro392Leu mutation within the SQSTM1 gene displaying a possible digenism. This study aimed at identifying this second genetic variant cosegregating with the p.Pro392Leu mutation and at characterizi...
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| Main Authors: | , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2022-03-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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