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Identification of four novel splice site mutations in the ornithine transcarbamylase gene

✍ Scribed by Elisabeth Oppliger Leibundgut,Bendicht Wermuth,Jean-Pierre Colombo…

Book ID
118291914
Publisher
Springer
Year
1996
Tongue
English
Weight
688 KB
Volume
97
Category
Article
ISSN
0340-6717

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Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency
✍ Consuelo Climent; Vicente Rubio 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 1 views

Ornithine transcarbamylase (OTC) deficiency, a X-linked disorder, is the most frequent inborn error of the urea cycle. Point mutations and small deletions/insertions in the OTC gene are responsible for the majority of the cases and have a "private"character with little recurrence. We report on eleve