Concepedia

Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients

Mika Hori, Naotaka Ohta, Atsushi Takahashi, Hiroaki Masuda, Rieko Isoda, Suguru Yamamoto, Cheol Son, Masatsune Ogura, Kiminori Hosoda, Yoshihiro Miyamoto,

Atherosclerosis · 2019 · 55 citations · 30 references

DOI

Concepts

References

30

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

, , +17

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

, , +14

Sequence Variations in <i>PCSK9,</i> Low LDL, and Protection against Coronary Heart Disease

Jonathan C. Cohen, Eric Boerwinkle, Thomas H. Mosley et al. · New England Journal of Medicine · 2006 · 3.2K citations · Full text

, , +17

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Marianne Abifadel, Mathilde Varret, Jean‐Pierre Rabès et al. · Nature Genetics · 2003 · 3K citations

, , +10