Genetic testing for familial hypercholesterolemia—past, present, and future
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Endocrinology,Biochemistry
Reference86 articles.
1. The molecular mechanism for the genetic disorder familial defective apolipoprotein B100;Boren;J. Biol. Chem.,2001
2. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia;Abifadel;Nat. Genet.,2003
3. Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation;Marduel;Hum. Mutat.,2013
4. ClinVar database of global familial hypercholesterolemia-associated DNA variants;Iacocca;Hum. Mutat.,2018
5. The UCL low-density lipoprotein receptor gene variant database: pathogenicity update;Leigh;J. Med. Genet.,2017
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