A de novo mutation of the LDL receptor gene as the cause of familial hypercholesterolemia identified using whole exome sequencing.

We report a rare case of heterozygous familial hypercholesterolemia (FH) caused by a de novo mutation in LDL receptor (LDLR) gene identified using whole exome sequencing. An 11-year-old female without any family histories of hypercholesterolemia was referred to our hospital to make clinical as well as molecular diagnoses. She was first diagnosed as hypercholesterolemia at the age of 3 (initial total cholesterol=381mg/dl) without any secondary causes.

Nano-scale characterization of binary self-assembled monolayers under an ambient condition with STM and TERS.

Gold surfaces were modified by benzyl-mercaptan (BM) and then partly replaced with benzenethiol (BT), which formed binary self-assembled monolayers (SAM). Initially BT randomly replaced BM in the monolayer, but at long exchange times >15 nm radius domains were observed with specific relative composition of BT and BM.