Beyond Sequencing: Integrating MLPA Reveals Hidden Structural PKD2 Variants and Enhances Mutation Detection in a Highly Selected ADPKD Greek Cohort

Akrivi Papachristopoulou, Angeliki Margoni, Aimilios Christos Simoudis, Aristea Mylona, Olga-Irini Kroupi, Petros Nikolopoulos, Athanasios G. Papavassiliou, Demetrios V. Vlahakos, Christos Kroupis

Open source

DOI
10.3390/medicina62091771
Published
2026-09-15
Container
Medicina
Publisher
MDPI AG
Open access
unknown

Credibility signals

uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

Cite this work

BibTeX

@article{allodium:10.3390/medicina62091771,
  title = {Beyond Sequencing: Integrating MLPA Reveals Hidden Structural PKD2 Variants and Enhances Mutation Detection in a Highly Selected ADPKD Greek Cohort},
  author = {Akrivi Papachristopoulou and Angeliki Margoni and Aimilios Christos Simoudis and Aristea Mylona and Olga-Irini Kroupi and Petros Nikolopoulos and Athanasios G. Papavassiliou and Demetrios V. Vlahakos and Christos Kroupis},
  year = {2026},
  journal = {Medicina},
  doi = {10.3390/medicina62091771},
  url = {https://doi.org/10.3390/medicina62091771}
}

RIS

TY  - JOUR
TI  - Beyond Sequencing: Integrating MLPA Reveals Hidden Structural PKD2 Variants and Enhances Mutation Detection in a Highly Selected ADPKD Greek Cohort
AU  - Akrivi Papachristopoulou
AU  - Angeliki Margoni
AU  - Aimilios Christos Simoudis
AU  - Aristea Mylona
AU  - Olga-Irini Kroupi
AU  - Petros Nikolopoulos
AU  - Athanasios G. Papavassiliou
AU  - Demetrios V. Vlahakos
AU  - Christos Kroupis
PY  - 2026
JO  - Medicina
DO  - 10.3390/medicina62091771
UR  - https://doi.org/10.3390/medicina62091771
ER  - 

APA

Papachristopoulou, A., Margoni, A., Simoudis, A. C., Mylona, A., Kroupi, O., Nikolopoulos, P., Papavassiliou, A. G., Vlahakos, D. V., & Kroupis, C. (2026). Beyond Sequencing: Integrating MLPA Reveals Hidden Structural PKD2 Variants and Enhances Mutation Detection in a Highly Selected ADPKD Greek Cohort. Medicina. https://doi.org/10.3390/medicina62091771

Source records