Title : A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial Hypercholesterolemia

Pub. Date : 2021 Sep 1

PMID : 34425670






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Moreover, HMGCR rs3846662 g.23092A>G was found to be homozygous (G/G) in the proband, probably leading to reduced response to simvastatin and pravastatin. Simvastatin 3-hydroxy-3-methylglutaryl-CoA reductase Homo sapiens