𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A new point mutation in cholinesterase: relationship between multiple mutation sites and enzyme activity

✍ Scribed by Hitoshi Takagi; Ayako Narahara; Hisashi Takayama; Ryuya Shimoda; Takeaki Nagamine; Masatomo Mori


Book ID
114303893
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
358 KB
Volume
6
Category
Article
ISSN
0928-4346

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Linkage between a new splicing site muta
✍ Gudrun Schneider; Teresa C. Paus; Gerd A. Kullak-Ublick; Peter J. Meier; Thomas πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 601 KB

Intrahepatic cholestasis of pregnancy (ICP) is defined as pruritus and elevated bile acid serum concentrations in late pregnancy. Splicing mutations have been described in the multidrug resistance p-glycoprotein 3 (MDR3, ABCB4) gene in up to 20% of ICP women. Pedigrees studied were not large enough

Sandhoff disease in Argentina: high freq
✍ Frida E. Kleiman; Raquel Dodelson Kremer; Ana Oller Ramirez; Roy A. Gravel; Carl πŸ“‚ Article πŸ“… 1994 πŸ› Springer 🌐 English βš– 422 KB

The level of beta-hexosaminidase activity in plasma and leukocytes and the frequency of three known HEXB mutations were studied in an Argentinean deme with high incidence of infantile Sandhoff disease. Two mutations were previously identified in one of two Sandhoff patients from the region, a splice