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