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Article

Conversion technology and its role in genetic testing of inherited diseases.

Expert review of molecular diagnostics - 1 Jul 2003

Papadopoulos Nickolas

Abstract excerpt

Identification of germline mutations in a sensitive and specific manner presents a continuing challenge. A major contributing factor to this is that humans are diploid and therefore mutations in one allele are often masked by the normal sequence present on the other copy of the chromosome. Mutati...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12877388
DOI: 10.1586/14737159.3.4.497

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12877388-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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