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Ahrens MJ, Berry SA, Whitley CB, Markowitz DJ, Plante RJ, Tuchman M (1996): Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation. Am J Med Genet 66:311-315

✍ Scribed by Gilbert-Barness, Enid

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 11 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970711)71:1<125::aid-ajmg24>3.0.co;2-n

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✦ Synopsis

Patients are identified by numbers corresponding to their designation on the pedigree illustration (Fig. 1).

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Clinical and biochemical heterogeneity i

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

✍ Ahrens, Mary J.; Berry, Susan A.; Whitley, Chester B.; Markowitz, Dorothy J.; Pl 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 395 KB 👁 2 views

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 fo