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Article

Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.

Human mutation - 1 Nov 2007

Dobrowolski Steven F, Ellingson Clinton E, Caldovic Ljubica, Tuchman Mendel

Abstract excerpt

Ornithine transcarbamylase (OTC) deficiency is an X-linked, semidominant genetic disorder and the most prevalent inherited defect of the urea cycle. Molecular genetic testing of the OTC gene is critically important for clinical diagnosis, carrier testing, and prenatal diagnosis. Private mutations...

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Source

Identifiers

PMID: 17565723
DOI: 10.1002/humu.20558

Genes

OTC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17565723-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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