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Article

Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model.

Journal of genetics and genomics = Yi chuan xue bao - 20 Apr 2021

Steyaert Wouter, Verschuere Shana, Coucke Paul J, Vanakker Olivier M

Abstract excerpt

Pseudogenes are frequently encountered noncoding sequences with a high sequence similarity to their protein-coding paralogue. For this reason, their presence is often considered troublesome in molecular diagnostics. In pseudoxanthoma elasticum (PXE), a disease predominantly caused by mutations in ATP-binding cassette family C member 6 (ABCC6), the presence of two pseudogenes complicates the analysis of sequence...

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Identifiers

PMID: 34049798
DOI: 10.1016/j.jgg.2021.02.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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