VAVERKOVA, Helena, Lukas TICHY, David KARASEK and Tomáš FREIBERGER. A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene. JOURNAL OF CLINICAL LIPIDOLOGY. New York: ELSEVIER SCIENCE INC, vol. 13, No 3, p. 405-410. ISSN 1933-2874. doi:10.1016/j.jacl.2019.02.003. 2019.
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Basic information
Original name A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene
Authors VAVERKOVA, Helena (203 Czech Republic, guarantor), Lukas TICHY (203 Czech Republic), David KARASEK (203 Czech Republic) and Tomáš FREIBERGER (203 Czech Republic, belonging to the institution).
Edition JOURNAL OF CLINICAL LIPIDOLOGY, New York, ELSEVIER SCIENCE INC, 2019, 1933-2874.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30104 Pharmacology and pharmacy
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 3.860
RIV identification code RIV/00216224:14110/19:00110603
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.1016/j.jacl.2019.02.003
UT WoS 000475544900010
Keywords in English Autosomal recessive hypercholesterolemia; LDLRAP1; Clinical phenotype; Hypercholesterolemia; Lipid lowering therapy; Statins; Ezetimibe; LDL apheresis; PCSK9 inhibitors
Tags EDITORIAL, podil, rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 11/5/2020 09:59.
Abstract
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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