Informace o publikaci

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

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VAVERKOVA Helena TICHY Lukas KARASEK David FREIBERGER Tomáš

Rok publikování 2019
Druh Článek v odborném periodiku
Časopis / Zdroj JOURNAL OF CLINICAL LIPIDOLOGY
Fakulta / Pracoviště MU

Lékařská fakulta

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