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Article

[Applying multiplex ligation-dependent probe amplification in the diagnosis of 5 cases with ornithine transcarbamylase deficiency].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2016

Gong Z W, Han L S, Ye J, Qiu W J, Zhang H W, Yu Y G, Liang L L, Gao X L, Wang Y, Ji W J, Gu X F

Abstract excerpt

OBJECTIVE: To detect large genomic deletions or duplications of ornithine transcarbamylase (OTC) gene by multiplex ligation-dependent probe amplification (MLPA). METHOD: Thirty cases of suspected OTC deficiency (OTCD) patients based on tandem-mass spectrum results were recruited in Xinhua Hospital from 2012 to 2014, among whom 13 were male and 17 were female. Sanger sequencing of OTC gene revealed mutations in 23...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27256231
DOI: 10.3760/cma.j.issn.0578-1310.2016.06.010

Genes

OTC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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