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Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

Stefano Bertolini, Livia Pisciotta, Claudio Rabacchi, Angelo B. Cefalù, Davide Noto, Tommaso Fasano, Alessio Signori, Raffaele Fresa, Maurizio Averna, S. Calandra

Atherosclerosis · 2013 · 151 citations · 22 references

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22

The metabolic and molecular bases of inherited disease

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

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Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics

Roger R. Williams, Steven C. Hunt, Mary Catherine Schumacher et al. · The American Journal of Cardiology · 1993 · 571 citations

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Update and Analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia Database

S. E. A. Leigh, A. H. Foster, Roslyn A. Whittall et al. · Annals of Human Genetics · 2008 · 233 citations

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Proof of “disease causing” mutation

RGH Cotton, C. R. Scriver · Human Mutation · 1998 · 204 citations

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Low‐Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

Ebele Usifo, S. E. A. Leigh, Ros Whittall et al. · Annals of Human Genetics · 2012 · 198 citations

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