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.

doi:10.1093/hmg/ddv068

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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.

Human molecular genetics - 1 Jun 2015

Vallet Mahéva, Soares Dinesh C, Wani Sachin, Sophocleous Antonia, Warner Jon, Salter Donald M, Ralston Stuart H, Albagha Omar M E

Abstract excerpt

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 susceptibility to PDB in several European populations. Here we conducted fine-mapping and targeted sequencing of the candidate...

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Identifiers

PMID: 25701875
DOI: 10.1093/hmg/ddv068
PMCID: PMC4424954

Genes

RIN3

Variants

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