Familial Hypercholesterolemia
Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil
Authors: G.A. Molfetta, D.L. Zanette, J.E. Santos and W.A. Silva Jr
Familial hypercholesterolemia (FH) is a dominant, autosomal disease characterized by high LDL levels in blood plasma, and is caused by a defect in the gene encoding the LDL receptor (LDLR). The clinical diagnosis is based on personal and familial history, physical examination findings, and measures of high LDL cholesterol conc.. Read More»
- Genet. Mol. Res. 16(3):
- gmr16039226
- DOI:
- 10.4238/gmr16039226
Correlation of SPECT imaging, biochemical parameters and mutation with systolic dysfunction
Authors: D. Alenizi, N.A. Kizilbash, O. Gill, A. Abukanna, S. Malik, A. Badawy
We investigated systolic dysfunction by the use of biochemical laboratory tests and perfusion single-photon emission computed tomography imaging in 32 Pakistani subjects exhibiting symptoms of this disorder. To investigate underlying genetic causes, such as familial hypercholesterolemia, DNA samples from these subjects were sc.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.November.26.6
- DOI:
- 10.4238/2013.November.26.6
Prediction of genetic risk factors of atherosclerosis using various bioinformatic tools
Authors: H.X. Wang and Y.X. Zhao
The aim of this study was to identify potential markers of atherosclerosis development in familial hypercholesterolemia (FH) patients. GSE13985 microarray data, generated using blood samples from 5 FH patients and 5 matched controls, was downloaded from the Gene Expression Omnibus. Differentially expressed genes (DEGs) between.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15027347
- DOI:
- 10.4238/gmr.15027347