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Article

Effectiveness of alternative strategies to define index case phenotypes to aid genetic diagnosis of familial hypercholesterolaemia.

Heart (British Cardiac Society) - 1 Feb 2013

Clarke Rosemary E J, Padayachee Soundrie T, Preston Rebecca, McMahon Zofia, Gordon Mitchell, Graham Colin, Crook Martin A, Wierzbicki Anthony S

Abstract excerpt

OBJECTIVE: To determine the utility of secondary stratification measures to improve the ascertainment of index cases of familial hypercholesterolaemia (FH). DESIGN: A retrospective study of genotyped index patients with Simon Broome (SB) FH. SETTING: University teaching hospital. PATIENTS: 204 pa...

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Source

Identifiers

PMID: 23213176
DOI: 10.1136/heartjnl-2012-302917

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23213176-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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