A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene
Journal of clinical lipidology.
2019 May-Jun ;
13 (3) :
405-410.
[epub] 20190216
Language English Country United States Media print-electronic
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
Persistent link
https://www.medvik.cz/link/pmid30876877
PubMed
30876877
DOI
10.1016/j.jacl.2019.02.003
PII: S1933-2874(19)30038-8
Knihovny.cz E-resources
- Keywords
- Autosomal recessive hypercholesterolemia, Clinical phenotype, Ezetimibe, Hypercholesterolemia, LDL apheresis, LDLRAP1, Lipid lowering therapy, PCSK9 inhibitors, Statins,
- MeSH
- Adaptor Proteins, Signal Transducing genetics MeSH
- Adult MeSH
- Genetic Variation * MeSH
- Heterozygote MeSH
- Hypercholesterolemia genetics MeSH
- Hyperlipoproteinemia Type III MeSH
- Middle Aged MeSH
- Humans MeSH
- Pedigree MeSH
- Aged MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Adaptor Proteins, Signal Transducing MeSH
- LDLRAP1 protein, human MeSH Browser
We report a new variant in the LDLRAP1 gene associated with autosomal recessive hypercholesterolemia in a woman of central European ancestry.
References provided by Crossref.org
Orphanet journal of rare diseases.
2021 Feb 27 ;
16 (1) :
110.
[epub] 20210227
