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: Mariam Dessay (Author), Emile Couture (Author), Halim Maaroufi (Author), Frédéric Fournier (Author), Edith Gagnon (Author), Arnaud Droit (Author), Jacques P. Brown (Author), Laëtitia Michou (Author)
Format: Book
Published: BMC, 2022-03-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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