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Article

Technology challenges in screening single gene disorders.

European journal of pediatrics - 1 Dec 2003

Braun Andreas, Roth Richard, McGinniss Matthew J

Abstract excerpt

UNLABELLED: The completion of the human genome project and the accelerated discovery of genes responsible for single gene disorders will allow for the preventive screening of carriers and patients. Accuracy and reliability of analytic tests are major demands on technologies used in a diagnostic s...

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PMID: 14574571
DOI: 10.1007/s00431-003-1343-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14574571-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

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

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