Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone

Paget's disease of bone (PDB) is a common disorder with a strong genetic component characterized by increased but disorganized bone remodelling. Previous genome-wide association studies identified a locus on chromosome 14q32 tagged by rs10498635 which was significantly associated with susceptib...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Hum Mol Genet
Κύριοι συγγραφείς: Vallet, Mahéva, Soares, Dinesh C., Wani, Sachin, Sophocleous, Antonia, Warner, Jon, Salter, Donald M., Ralston, Stuart H., Albagha, Omar M.E.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Oxford University Press 2015
Θέματα:
Association Studies Articles
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4424954/
https://ncbi.nlm.nih.gov/pubmed/25701875
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv068
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