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Genetic polymorphisms and variants in the LDL receptor associated with familial hypercholesterolemia: cascade screening and identification of the variants 666C>A, 862G>A, 901G>A, and 919G>A of a Brazilian family.
Clin Chem Lab Med. 2018 Dec 19;57(2):e23-e26. doi: 10.1515/cclm-2018-0307.
Clin Chem Lab Med. 2018.
PMID: 30016271
No abstract available.
Compound Heterozygous Familial Hypercholesterolemia Caused by LDLR Variants.
Pamplona-Cunha H, Medeiros MF, Sincero TCM, Back IC, Silva ELD.
Pamplona-Cunha H, et al.
Arq Bras Cardiol. 2020 Sep;115(3):587-589. doi: 10.36660/abc.20190582.
Arq Bras Cardiol. 2020.
PMID: 33027386
Free PMC article.
English, Portuguese.
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