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Characterization of a Phenotype-Based Genetic Test Prediction Score for Unrelated Patients With Hypertrophic Cardiomyopathy

Authors :
Bos, J. Martijn
Will, Melissa L.
Gersh, Bernard J.
Kruisselbrink, Teresa M.
Ommen, Steve R.
Ackerman, Michael J.
Source :
Mayo Clinic Proceedings; June 2014, Vol. 89 Issue: 6 p727-737, 11p
Publication Year :
2014

Abstract

To determine the prevalence and spectrum of mutations and genotype-phenotype relationships in the largest hypertrophic cardiomyopathy (HCM) cohort to date and to provide an easy, clinically applicable phenotype-derived score that provides a pretest probability for a positive HCM genetic test result.

Details

Language :
English
ISSN :
00256196
Volume :
89
Issue :
6
Database :
Supplemental Index
Journal :
Mayo Clinic Proceedings
Publication Type :
Periodical
Accession number :
ejs32988455
Full Text :
https://doi.org/10.1016/j.mayocp.2014.01.025