๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Ornithine transcarbamylase deficiency: Ten new mutations and high proportion of de novo mutations in heterozygous females

โœ Scribed by Elisabeth Oppliger Leibundgut; Sabina Liechti-Gallati; Jean-Pierre Colombo; Bendicht Wermuth


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
116 KB
Volume
9
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Clinical and biochemical heterogeneity i
โœ Ahrens, Mary J.; Berry, Susan A.; Whitley, Chester B.; Markowitz, Dorothy J.; Pl ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 395 KB ๐Ÿ‘ 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

Ahrens MJ, Berry SA, Whitley CB, Markowi
โœ Gilbert-Barness, Enid ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 11 KB ๐Ÿ‘ 2 views

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