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Article

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.

American journal of medical genetics - 18 Dec 1996

Ahrens M J, Berry S A, Whitley C B, Markowitz D J, Plante R J, Tuchman M

Abstract excerpt

A large family with ornithine transcarbamylase deficiency due to mutation R141Q was ascertained through a propositus who presented with acute neonatal hyperammonemic coma. Of 13 females at risk, 11 were evaluated clinically and had laboratory studies performed. Seven were found to be heterozygous for the mutation. Of these seven, five had chronic clinical symptoms and two were asymptomatic. None of the...

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Identifiers

PMID: 8985493
DOI: 10.1002/(SICI)1096-8628(19961218)66:3<311::AID-AJMG14>3.0.CO;2-P

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

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