𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of a Novel Frame Shift Mutation of the LDL Receptor Gene Causing Familial Hypercholesterolemia in Omani Family*

✍ Scribed by Khalid Ali Al-Waili; Ali Al-Hinai; Abdulrahim Al-Abri; Khalid Al-Rasadi; Humood Al-Dhuhli


Book ID
119288008
Publisher
Elsevier
Year
2011
Tongue
English
Weight
111 KB
Volume
5
Category
Article
ISSN
1933-2874

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification of two LDL receptor mutat
✍ Tester F. Ashavaid; Altaf A. Kondkar; Kappiareth G. Nair πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 161 KB πŸ‘ 1 views

Familial hypercholesterolemia (FH) is a genetic disorder caused by numerous mutations in the low-density lipoprotein receptor (LDLR) gene. Mutational analyses of Indians in South Africa suggest the possibility of a high frequency of FH in India. This study aimed at identifying mutations in exons 3,

Identification of recurrent and novel mu
✍ Hiroaki Hattori; Makoto Nagano; Fujihiko Iwata; Yasuhiko Homma; Tohru Egashira; πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 19 KB πŸ‘ 2 views

We used the denaturing gradient gel electrophoresis (DGGE) method to investigate 120 Japanese patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequence of the low density lipoprotein (LDL) receptor gene. Fourteen aberran