Concepedia

Homozygous familial hypercholesterolemia in Lebanon: A genotype/phenotype correlation

Akl C. Fahed, Raya Safa, F. Haddad, Fadi Bitar, Rabih R. Andary, Mariam Arabi, Sami T. Azar, Georges Nemer

Molecular Genetics and Metabolism · 2010 · 58 citations · 23 references

DOI

Concepts

References

23

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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The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA

Tokuo Yamamoto, Christopher G. Davis, Michael S. Brown et al. · Cell · 1984 · 1.4K citations

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The LDL Receptor Gene: A Mosaic of Exons Shared with Different Proteins

Thomas C. Südhof, Joseph L. Goldstein, Michael S. Brown et al. · Science · 1985 · 854 citations · Full text

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Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein

Christine Kim Garcia, Kenneth R. Wilund, Marcello Arca et al. · Science · 2001 · 611 citations

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Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.

T L Innerarity, Karl H. Weisgraber, K S Arnold et al. · Proceedings of the National Academy of Sciences · 1987 · 482 citations · Full text

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