A de novo mutation of the LDL receptor gene as the cause of familial hypercholesterolemia identified using whole exome sequencing.
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K. Hayashi | H. Mabuchi | A. Tajima | A. Nohara | M. Kawashiri | Akihiro Inazu | H. Tada | K. Hosomichi | H. Okada | Shigeru Tomizawa