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Article

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.

Human mutation - 1 Mar 2009

Andersen Paal Skytt, Havndrup Ole, Hougs Lotte, Sørensen Karina M, Jensen Morten, Larsen Lars Allan, Hedley Paula, Thomsen Alex Rojas Bie, Moolman-Smook Johanna, Christiansen Michael, Bundgaard Henning

Abstract excerpt

The American Heart Association (AHA) recommends family screening for hypertrophic cardiomyopathy (HCM). We assessed the outcome of family screening combining clinical evaluation and screening for sarcomere gene mutations in a cohort of 90 Danish HCM patients and their close relatives, in all 451...

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Source

Identifiers

PMID: 19035361
DOI: 10.1002/humu.20862

Genes

CSRP3
MYBPC3
MYH7
MYL3
TCAP
TNNC1
TNNI3
TNNT2
TPM1
TTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19035361-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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