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

J Clin Lipidol

Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Central European Institute of Technology and Medical Faculty, Masaryk University, Brno, Czech Republic.

Published: May 2020

We report a new variant in the LDLRAP1 gene associated with autosomal recessive hypercholesterolemia in a woman of central European ancestry.

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Source
http://dx.doi.org/10.1016/j.jacl.2019.02.003DOI Listing

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