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Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia

Objective: It has been shown that pathogenic variants are associated with poor clinical outcomes in patients with familial hypercholesterolemia (FH). However, data on the effect of different types of pathogenic variants on FH phenotype is limited.Methods: We retrospectively investigated the associat...

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Principais autores: Hayato Tada, Nobuko Kojima, Kan Yamagami, Akihiro Nomura, Atsushi Nohara, Soichiro Usui, Kenji Sakata, Noboru Fujino, Masayuki Takamura, Masa-Aki Kawashiri
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-04-01
coleção:Frontiers in Genetics
Assuntos:
familial hypercholesterolemia
LDL cholesterol
genetics
LDL receptor (LDLR)
protein-truncating variants
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fgene.2022.872056/full
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