Variable and Severe Phenotypic Expression of the “Lebanese Allele” in Two Sisters with Familial Hypercholesterolemia

The “Lebanese allele” {LDLR c.2043 C>A (p.cys681X)} is a nonsense mutation in the low-density lipoprotein receptor (LDLR) gene that results in a truncated non-functioning LDLR protein. We report two sisters of Lebanese descent who presented with familial hypercholesterolemia (FH) and were both he...

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Detalles Bibliográficos
Autores principales: Chahine, Johnny, Kreykes, Sarah, Van’t Hof, Jeremy R, Duprez, Daniel, Nijjar, Prabhjot
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8312315/
https://www.ncbi.nlm.nih.gov/pubmed/34321884
http://dx.doi.org/10.2147/VHRM.S314704

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8312315/
https://www.ncbi.nlm.nih.gov/pubmed/34321884
http://dx.doi.org/10.2147/VHRM.S314704

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