Informace o publikaci
A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene
| Autoři | |
|---|---|
| Rok publikování | 2019 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | JOURNAL OF CLINICAL LIPIDOLOGY |
| Fakulta / Pracoviště MU | |
| 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. |