TY  - GEN
AU  - Vaverkova,Helena
AU  - Tichy,Lukas
AU  - Karasek,David
AU  - Freiberger,Tomas
TI  - A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene
SN  - 1933-2874
PY  - 2020///0525
KW  - Adaptor Proteins, Signal Transducing
KW  - genetics
KW  - Adult
KW  - Aged
KW  - Female
KW  - Genetic Variation
KW  - Heterozygote
KW  - Humans
KW  - Hypercholesterolemia
KW  - Male
KW  - Middle Aged
KW  - Pedigree
KW  - Hyperlipoproteinemia Type III
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.jacl.2019.02.003
ER  -