Concepedia

Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients

Afef Slimani, Awatef Jelassi, Imen Jguirim, Mohamed Najah, L. Rebhi, Asma Omezzine, Faouzi Maatouk, Khaldoun Ben Hamda, Maha Kacem, Jean‐Pierre Rabès,

Atherosclerosis · 2012 · 26 citations · 31 references

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References

31

The metabolic and molecular bases of inherited disease

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

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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

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

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Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI.

D.T. Vernier · Journal of Lipid Research · 1990 · 3K citations · Full text

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Abnormal lipoprotein receptor-binding activity of the human E apoprotein due to cysteine-arginine interchange at a single site.

Karl H. Weisgraber, T L Innerarity, Robert W. Mahley · Journal of Biological Chemistry · 1982 · 676 citations · Full text

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A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol

Ingrid K. Kotowski, Alexander Pertsemlidis, Amy Luke et al. · The American Journal of Human Genetics · 2006 · 520 citations · Full text

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