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

被引：0

作者：

Mariam Dessay

Emile Couture

Halim Maaroufi

Frédéric Fournier

Edith Gagnon

Arnaud Droit

Jacques P. Brown

Laëtitia Michou

机构：

[1] CHU de Québec-Université Laval Research Centre,Institut de Biologie Intégrative Et Des Systèmes (IBIS)

[2] Université Laval,Department of Medicine

[3] Université Laval,Department of Rheumatology

[4] CHU de Québec-Université Laval,R4774

来源：

BMC Medical Genomics | / 15卷

关键词：

Paget’s disease of bone; gene; gene; p.Pro392Leu mutation; p.Val45Ile variant; Whole exome sequencing; Serum response factor;

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