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Article

High-performance detection of somatic D-loop mutation in urothelial cell carcinoma patients by polymorphism ratio sequencing.

Journal of molecular medicine (Berlin, Germany) - 1 Sept 2016

Duberow David P, Brait Mariana, Hoque Mohammad O, Theodorescu Dan, Sidransky David, Dasgupta Santanu, Mathies Richard A

Abstract excerpt

UNLABELLED: Utilizing a polymorphism ratio sequencing platform, we performed a complete somatic mutation analysis of the mitochondrial D-loop region in 14 urothelial cell carcinomas. A total of 28 somatic mutations, all heteroplasmic, were detected in 8 of 14 individuals (57.1 %). Insertion/deletion changes in unstable mono- and dinucleotide repeat segments comprise the most pervasive class of mutations (9 of...

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Identifiers

PMID: 27030170
DOI: 10.1007/s00109-016-1407-2
PMCID: PMC8883517

Provenance

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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