J.E. Santos

Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil

• G.A. Molfetta
• D.L. Zanette
• J.E. Santos
• 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 concentrations. LDLR is a cell-surface glyco.. Read More»

Genet. Mol. Res. 16(3): gmr16039226

DOI: 10.4238/gmr16039226