Concepedia

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

Hayato Tada, Kazuyoshi Hosomichi, Hirofumi Okada, Masa‐aki Kawashiri, Atsushi Nohara, Akihiro Inazu, Shigeru Tomizawa, Atsushi Tajima, Hiroshi Mabuchi, Kenshi Hayashi

Clinica Chimica Acta · 2015 · 11 citations · 11 references

DOI

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11

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al. · The American Journal of Human Genetics · 2007 · 36.1K citations · Full text

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A map of human genome variation from population-scale sequencing

Nature · 2010 · 8.1K citations · Full text

, , +17

Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan

Hiroshi Mabuchi, Atsushi Nohara, Tohru Noguchi et al. · Atherosclerosis · 2010 · 121 citations · Full text

, , +14

Large-Scale East-Asian eQTL Mapping Reveals Novel Candidate Genes for LD Mapping and the Genomic Landscape of Transcriptional Effects of Sequence Variants

Maiko Narahara, Koichiro Higasa, Seiji Nakamura et al. · PLoS ONE · 2014 · 120 citations · Full text

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Familial Hypercholesterolemia

Tamio Teramoto, Junichi Sasaki, Shun Ishibashi et al. · Journal of Atherosclerosis and Thrombosis · 2013 · 35 citations · Full text

, , +10