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Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young.

Polskie Archiwum Medycyny Wewnetrznej - 1 Jan 2015

Szopa Magdalena, Ludwig-Gałęzowska Agnieszka, Radkowski Piotr, Skupień Jan, Zapała Barbara, Płatek Teresa, Klupa Tomasz, Kieć-Wilk Beata, Borowiec Maciej, Młynarski Wojciech, Wołkow Paweł, Małecki Maciej T

Abstract excerpt

INTRODUCTION: Molecular diagnosis of monogenic diabetes mellitus is important for individualized patient care. Next-generation sequencing (NGS) enables a simultaneous analysis of multiple genes in a single test. OBJECTIVES: We aimed to assess the feasibility of using NGS for detecting mutations in a set of known monogenic diabetes gene mutations in a cohort of Polish patients with maturity-onset diabetes of the...

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PMID: 26552609
DOI: 10.20452/pamw.3164

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

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