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Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency

✍ Scribed by Anna Pelet; Agnès Rotig; Catherine Bonaïti-Pellié; Daniel Rabier; Valérie Cormier; Elias Toumas; Danièle Hentzen; Jean-Marie Saudubray; Arnold Munnich


Publisher
Springer
Year
1990
Tongue
English
Weight
498 KB
Volume
84
Category
Article
ISSN
0340-6717

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Familial lethal inheritance of a mutated
✍ Komaki, Satoru; Matsuura, Toshinobu; Oyanagi, Kazuhiko; Hoshide, Ryuuji; Kiwaki, 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB 👁 2 views

A Leu148Phe substitution of the ornithine transcarbamylase (OTC) gene was identified in a 2-year-old girl with OTC deficiency (14% of control). Her two elder sisters died in childhood of hyperammonemia, and the patient also died of OTC deficiency. Enzyme activity in Cos1 cells transfected by the mut