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
DOCK6 基因罕见变异导致 p.Pro392Leu/SQSTM1 突变,从而减弱佩吉特骨病的临床和破骨细胞表型
期刊:BMC Medical Genomics
影响因子:2.1
doi:10.1186/s12920-022-01198-9
Mariam Dessay, Emile Couture, Halim Maaroufi, Frédéric Fournier, Edith Gagnon, Arnaud Droit, Jacques P Brown, Laëtitia Michou