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Article

Polymorphisms in genes implicated in base excision repair (BER) pathway are associated with susceptibility to Paget's disease of bone.

Bone - 1 Jul 2018

Usategui-Martín Ricardo, Gutiérrez-Cerrajero Carlos, Jiménez-Vázquez Sonia, Calero-Paniagua Ismael, García-Aparicio Judit, Corral-Gudino Luis, Del Pino-Montes Javier, González-Sarmiento Rogelio

Abstract excerpt

Paget's disease of bone (PDB) is a chronic bone metabolic disorder. Currently, PDB is the second most frequent bone disorder. PDB is a focal disorder affecting the skeleton segmentally but the cause of which is unknown. It has been hypothesised that somatic mutations could be responsible for the mosaicism described in PDB patients. Therefore, our hypothesis is that defective response to DNA damage may lead to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29630930
DOI: 10.1016/j.bone.2018.04.003

Genes

XRCC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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