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Article

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

BMC cardiovascular disorders - 17 Mar 2022

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

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) due to a founder variant in Apolipoprotein B (ApoBR3500Q) is reported in 12% of the Pennsylvania Amish community. By studying a cohort of ApoBR3500Q heterozygotes and homozygotes, we aimed to characterize the biochemical and cardiac imaging features in children and young adults with a common genetic background and similar lifestyle. METHODS: We employed advanced...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carotid Intima-Media Thickness

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Source

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Identifiers

PMID: 35300601
DOI: 10.1186/s12872-022-02539-3
PMCID: PMC8928591

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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