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
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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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  • [1] 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
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  • [2] Impact on the clinical and osteoclastic phenotypes of a rare variant in the DOCK6 gene in familial forms of Paget's disease linked to the p. Pro392Leu mutation in the SQSTM1 gene.
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  • [4] Recurrent SQSTM1 gene mutation at codon 392 in Paget's disease of bone.
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    JOURNAL OF BONE AND MINERAL RESEARCH, 2003, 18 : S390 - S390
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