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Article

Identification and molecular characterisation of Lausanne Institutional Biobank participants with familial hypercholesterolaemia - a proof-of-concept study.

Swiss medical weekly - 1 Jan 2016

Maurer Fabienne, Pradervand Sylvain, Guilleret Isabelle, Nanchen David, Maghraoui Ali, Chapatte Laurence, Bojkowska Karolina, Bhuiyan Zahurul Alam, Jacquemont Nathalie, Harshman Keith, Mooser Vincent

Abstract excerpt

AIMS: We aimed to identify familial hypercholesterolaemia mutation carriers among participants to the Lausanne Institutional Biobank (BIL). Our experimental workflow was designed as a proof-of-concept demonstration of the resources and services provided by our integrated institutional clinical research support platform. METHODS: Familial hypercholesterolaemia was used as a model of a relatively common yet often...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27497240
DOI: 10.4414/smw.2016.14326

Genes

LDLR
APOB
PCSK9

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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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