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Article

Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome.

Journal of inherited metabolic disease - 1 Oct 2007

Arranz J A, Madrigal I, Riudor E, Armengol Ll, Milà M

Abstract excerpt

Ornithine transcarbamylase deficiency is an X-linked semidominant trait that is the most frequent inborn error of the urea cycle. Three hundred and fifty different mutations, including mostly point mutations and a small proportion of large rearrangements have been reported. Conventional molecular diagnosis is highly reliable for point mutations but can miss gross rearrangements. We describe a contiguous gene...

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Source

Identifiers

PMID: 17570074
DOI: 10.1007/s10545-007-0578-y

Genes

OTC
RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome.PMID 17570074Read ↗

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