Article
Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.
International journal of molecular medicine - 1 Mar 2006
Cefalù Angelo B, Barraco Giacoma, Noto Davide, Valenti Vincenza, Barbagallo Carlo M, Elisir Gerardo D, Cuniberti Luis A, Werba José P, Libra Massimo, Costa Salvatore, Gianguzza Fabrizio, Notarbartolo Alberto, Travali Salvatore, Averna Maurizio R
Abstract excerpt
Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by mutations in the gene coding for the low density lipoprotein receptor (LDL-R). It is characterized by a high concentration of low density lipoprotein (LDL), which frequently gives rise to premature coronary artery disease. We studied the probands of five FH Sicilian families with 'definite' FH and one proband of Paraguayan...
Topics
- Adult
- Biological Assay
- Cells, Cultured
- Child
- Child, Preschool
- DNA Mutational Analysis
- Exons
- Humans
- Hyperlipoproteinemia Type II
- Lipids
- Middle Aged
- Mutation
- Paraguay