𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel mutations in the cytochrome P450 2C19 gene: a pitfall of the PCR-RFLP method for identifying a common mutation

✍ Scribed by Yumiko Ohkubo; Akihito Ueta; Naoki Ando; Tetsuya Ito; Sachiko Yamaguchi; Kantaro Mizuno; Satoshi Sumi; Tohru Maeda; Daiju Yamazaki; Yukihisa Kurono; Shinji Fujimoto; Hajime Togari


Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
276 KB
Volume
51
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A nonsense mutation in the cytochrome P4
✍ F. Broly; D. Marez; J.-M. Guidice; N. Sabbagh; M. Legrand; P. Boone; U. A. Meyer 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 375 KB

A novel mutation that generates a stop codon in the third exon of the gene encoding the cytochrome P-450 CYP2D6 was identified in a Caucasian having a deficiency of the isozyme, by means of single strand conformation polymorphism analysis of DNA fragments amplified by the polymerase chain reaction,

Twenty-one novel mutations in the GLB1 g
✍ Raül Santamaria; Amparo Chabás; Maria Josep Coll; Clara Sa Miranda; Lluïsa Vilag 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB 👁 1 views

## Communicated by Elizabeth Neufeld GM1-gangliosidosis and Morquio B disease are rare lysosomal storage disorders caused by β-galactosidase deficiency due to mutations in the GLB1 gene. Three major clinical forms of GM1-gangliosidosis have been established on the basis of age of onset and severit