Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy

• Main Authors: Lopes, L.R, Syrris, P, Guttmann, O.P, O'Mahony, C, Tang, H.C, Dalageorgou, C, Jenkins, S, Hubank, M, Monserrat, L, McKenna, W.J, Plagnol, V, Elliott, P.M
• Other Authors: DUKE-NUS MEDICAL SCHOOL
• Format: Article
• Published: BMJ Publishing Group 2020
• Subjects: adolescent; adult; age distribution; aged; ANK2 gene; Article; cardiovascular mortality; child; clinical examination; controlled study; family history; female; gene; gene mutation; genetic analysis; genetic association; genetic variability; genotype phenotype correlation; heart ventricle hypertrophy; high throughput sequencing; human; hypertrophic cardiomyopathy; incidence; major clinical study; male; overall survival; preschool child; prevalence; prospective study; school child; sex difference; SP gene; sudden cardiac death; very elderly; age; Cardiomyopathy, Hypertrophic, Familial; Death, Sudden, Cardiac; dna mutational analysis; England; genetic association study; genetic predisposition; genetics; Kaplan Meier method; middle aged; mortality; mutation; pedigree; phenotype; predictive value; procedures; retrospective study; risk factor; young adult; muscle protein; Adolescent; Adult; Age Factors; Aged; Aged, 80 and over; Child; DNA Mutational Analysis; Female; Genetic Association Studies; Genetic Predisposition to Disease; High-Throughput Nucleotide Sequencing; Humans; Kaplan-Meier Estimate; London; Male; Middle Aged; Muscle Proteins; Mutation; Pedigree; Phenotype; Predictive Value of Tests; Retrospective Studies; Risk Factors; Young Adult
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/180087
• Institution: National University of Singapore

10.1136/heartjnl-2014-306387