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Article

Sequence capture and next-generation resequencing of multiple tagged nucleic acid samples for mutation screening of urea cycle disorders.

Clinical chemistry - 1 Jan 2011

Amstutz Ursula, Andrey-Zürcher Gisela, Suciu Dominic, Jaggi Rolf, Häberle Johannes, Largiadèr Carlo R

Abstract excerpt

BACKGROUND: Molecular genetic testing is commonly used to confirm clinical diagnoses of inherited urea cycle disorders (UCDs); however, conventional mutation screenings encompassing only the coding regions of genes may not detect disease-causing mutations occurring in regulatory elements and intr...

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Source

Identifiers

PMID: 21068339
DOI: 10.1373/clinchem.2010.150706

Genes

CPS1
NAGS
OTC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21068339-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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