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Article

Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency.

Clinica chimica acta; international journal of clinical chemistry - 15 Nov 2013

Cho Sun Young, Goh Denise Li-Meng, Lau Kin-Chong, Ong Hian Tat, Lam Ching-Wan

Abstract excerpt

BACKGROUND: In the investigation of a proband with a biochemical diagnosis of isolated sulfite oxidase deficiency, we identified a homozygous nonsense mutation of the SUOX gene in the proband. However, the mutation was only detected in the father and not the mother. Deletion of the SUOX gene of t...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23994568
DOI: 10.1016/j.cca.2013.08.013

Genes

SUOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23994568-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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