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Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B

BACKGROUND: Familial hypercholesterolemia (FH) due to a founder variant in Apolipoprotein B (ApoB(R3500Q)) is reported in 12% of the Pennsylvania Amish community. By studying a cohort of ApoB(R3500Q) heterozygotes and homozygotes, we aimed to characterize the biochemical and cardiac imaging features...

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Detalles Bibliográficos
Autores principales:	Williams, Katie B., Horst, Michael, Young, Millie, Pascua, Christine, Puffenberger, Erik G., Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Shuldiner, Alan R., Gidding, Samuel, Strauss, Kevin A., Chowdhury, Devyani
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8928591/ https://www.ncbi.nlm.nih.gov/pubmed/35300601 http://dx.doi.org/10.1186/s12872-022-02539-3

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