Publication details

A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene

Authors

VAVERKOVA Helena TICHY Lukas KARASEK David FREIBERGER Tomáš

Year of publication 2019
Type Article in Periodical
Magazine / Source JOURNAL OF CLINICAL LIPIDOLOGY
MU Faculty or unit

Faculty of Medicine

Citation Chyba/Error
web https://www.sciencedirect.com/science/article/pii/S1933287419300388
Doi http://dx.doi.org/10.1016/j.jacl.2019.02.003
Keywords Autosomal recessive hypercholesterolemia; LDLRAP1; Clinical phenotype; Hypercholesterolemia; Lipid lowering therapy; Statins; Ezetimibe; LDL apheresis; PCSK9 inhibitors
Description We report a new variant in the LDLRAP1 gene associated with autosomal recessive hyper-cholesterolemia in a woman of central European ancestry.

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