A Novel Variant in APOB Gene Causes Extremely Low LDL-C Without Known Adverse Effects

A novel frameshift variant was identified in APOB that segregates in a dominant manner with low levels of low-density lipoprotein cholesterol. Affected family members show no apparent clinical complications. There is no consensus regarding clinical management, and the long-term consequences of low l...

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Detalles Bibliográficos
Autores principales: Surakka, Ida, Hornsby, Whitney E., Farhat, Linda, Rubenfire, Melvyn, Fritsche, Lars G., Hveem, Kristian, Chen, Y. Eugene, Brook, Robert D., Willer, Cristen J., Weinberg, Richard L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8301695/
https://www.ncbi.nlm.nih.gov/pubmed/34317346
http://dx.doi.org/10.1016/j.jaccas.2020.03.016
Descripción
Sumario:A novel frameshift variant was identified in APOB that segregates in a dominant manner with low levels of low-density lipoprotein cholesterol. Affected family members show no apparent clinical complications. There is no consensus regarding clinical management, and the long-term consequences of low levels of low-density lipoprotein cholesterol remain unknown. (Level of Difficulty: Advanced.)

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