Bertolini S, Pisciotta L, Rabacchi C, Cefalu AB, Noto D, Fasano T, Signori A, Fresa R, Averna M, Calandra S

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

Atherosclerosis 227:342-8 (2013)
DOI:10.1016/j.atherosclerosis.2013.01.007

Di Taranto MD, D'Agostino MN, Fortunato G

Functional characterization of mutant genes associated with autosomal dominant familial hypercholesterolemia: integration and evolution of genetic diagnosis.

Nutr Metab Cardiovasc Dis 25:979-87 (2015)
DOI:10.1016/j.numecd.2015.06.007

Sharifi M, Futema M, Nair D, Humphries SE

Genetic Architecture of Familial Hypercholesterolaemia.

Curr Cardiol Rep 19:44 (2017)
DOI:10.1007/s11886-017-0848-8

Fahed AC, Nemer GM

Familial hypercholesterolemia: the lipids or the genes?

Nutr Metab (Lond) 8:23 (2011)
DOI:10.1186/1743-7075-8-23

De Castro-Oros I, Pocovi M, Civeira F

The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.

Appl Clin Genet 3:53-64 (2010)
DOI:10.2147/TACG.S8285