Targeted sequencing of DCSTAMP in familial Paget's disease of bone

Paget's disease of bone (PDB) has a strong genetic component. Variants in SQSTM1 are found in up to 40% of patients with a family history of the disease, where a pattern of autosomal dominance with incomplete penetrance is apparent. By contrast, SQSTM1 variants are only found in up to 10% of pa...

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Bibliografiske detaljer
Udgivet i:Bone Rep
Main Authors: Sultana, M.A., Pavlos, N.J., Ward, Lynley, Walsh, J.P., Rea, S.L.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6403439/
https://ncbi.nlm.nih.gov/pubmed/30886882
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bonr.2019.100198
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