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Article

[Methods for the analysis of large gene deletions and their application in some hereditary diseases].

Orvosi hetilap - 13 Dec 2009

Gergics Péter, Toke Judit, Szilágyi Agnes, Szappanos Agnes, Kender Zoltán, Barta György, Tóth Miklós, Igaz Péter, Rácz Károly, Patócs Attila

Abstract excerpt

Complete or partial gene deletions and copy number variations of disease-causing genes have pathophysiological significance in several monogenic hereditary diseases. Direct DNA sequencing is not suitable for the detection of these genetic abnormalities. In this work, authors review methods of lar...

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Source

Identifiers

PMID: 19951857
DOI: 10.1556/OH.2009.28755

Genes

VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19951857-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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