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The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients

โœ Scribed by Atsushi Nishiyori; M. Yoshino; Hirohisa Kato; Toshinobu Matsuura; Ryuuji Hoshide; Ichiro Matsuda; Tateo Kuno; Sumio Miyazaki; Shin-ichi Hirose; Ryu-ichi Kuromaru; Masataka Mori


Publisher
Springer
Year
1997
Tongue
English
Weight
139 KB
Volume
99
Category
Article
ISSN
0340-6717

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Asymptomatic and late-onset ornithine tr
โœ Ausems, M. G. E. M.; Bakker, E.; Berger, R.; Duran, M.; van Diggelen, O. P.; Keu ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 101 KB ๐Ÿ‘ 2 views

We describe a 4-generation family in which a previously healthy 10-year-old boy died of late-onset ornithine transcarbamylase (OTC) deficiency. Pedigree analysis and allopurinol loading tests in female relatives were not informative. A missense mutation (A208T) in the OTC gene was detected in the de