𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia

✍ Scribed by Patrick Calvas; Bertrand Ségues; Jean-Michel Rozet; Daniel Rabier; Jean-Paul Bonnefond; Arnold Munnich

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
320 KB
Volume
11
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

H intragenic polymorphisms and haplotype
H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency
✍ Consuelo Climent; Vicente Rubio 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 1 views

The "private" nature of most mutations causing ornithine transcarbamylase (OTC) deficiency makes mutation identification in the patients difficult. Further, the PCR-amplification technology generally used for the genetic diagnosis of the deficiency misses large deletions in carrier females. Intragen

Lymphocyte mRNA analysis of the ornithin
Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: Identification of novel mutations
✍ Massimo Giorgi; Amelia Morrone; M. Alice Donati; Federica Ciani; Tiziana Bardell 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 69 KB 👁 2 views

A new simple, non-invasive method using ornithine transcarbamylase (OTC) mRNA isolated from peripheral blood (PBL) or lymphoblastoid cell lines has been performed. This approach based on reverse transcription and nested PCR to obtain a double strand PBL OTC cDNA allowed the identification of genetic