Concepedia

Autosomal recessive hypercholesterolemia in Spain

Rosa M. Sánchez-Hernández, Pablo Prieto‐Matos, Fernando Civeira, Eduardo Esteve Lafuente, M. Frías Vargas, José T. Real, Fernando Goñi, Francisco Fuentes, Miguel Pocovı́, Mauro Boronat,

Atherosclerosis · 2017 · 21 citations · 22 references

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22

SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K 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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Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study

Frederick J. Raal, G. Kees Hovingh, Dirk Blom et al. · The Lancet Diabetes & Endocrinology · 2017 · 218 citations

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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions

Jaroslav Bendl, Miloš Musil, Jan Štourač et al. · PLoS Computational Biology · 2016 · 204 citations · Full text

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Experiences with the Homozygous Cases of Familial Hypercholesterolemia

Avedis K. Khachadurian, S Uthman · Annals of Nutrition and Metabolism · 1973 · 181 citations

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