TY  - JOUR
AU  - Salazar-Mendiguchía, Joel
AU  - Ochoa, Juan Pablo
AU  - Palomino-Doza, Julian
AU  - Domínguez, Fernando
AU  - Díez-López, Carles
AU  - Akhtar, Mohammed
AU  - Ramiro-León, Soraya
AU  - Clemente, María M
AU  - Pérez-Cejas, Antonia
AU  - Robledo, María
AU  - Gómez-Díaz, Iria
AU  - Peña-Peña, María Luisa
AU  - Climent, Vicente
AU  - Salmerón-Martínez, Francisco
AU  - Hernández, Celestino
AU  - García-Granja, Pablo E
AU  - Mogollón, M Victoria
AU  - Cárdenas-Reyes, Ivonne
AU  - Cicerchia, Marcos
AU  - García-Giustiniani, Diego
AU  - Lamounier, Arsonval
AU  - Gil-Fournier, Belén
AU  - Díaz-Flores, Felícitas
AU  - Salguero, Rafael
AU  - Santomé, Luis
AU  - Syrris, Petros
AU  - Olivé, Montse
AU  - García-Pavía, Pablo
AU  - Ortiz-Genga, Martín
AU  - Elliott, Perry M
AU  - Monserrat, Lorenzo
AU  - GENESCOPIC Research Group
PY  - 2020
DO  - 10.1136/heartjnl-2020-316913
UR  - http://hdl.handle.net/10668/15635
T2  - Heart (British Cardiac Society)
AB  - Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. TRIM63 has been suggested as a candidate gene for the development of cardiomyopathies, although evidence for a causative role in HCM is...
LA  - en
KW  - familial cardiomyopathies
KW  - genetics
KW  - hypertrophic cardiomyopathy
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Aged, 80 and over
KW  - Cardiomyopathy, Hypertrophic
KW  - Case-Control Studies
KW  - Child
KW  - DNA Mutational Analysis
KW  - Europe
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Heredity
KW  - Heterozygote
KW  - High-Throughput Nucleotide Sequencing
KW  - Homozygote
KW  - Humans
KW  - Hypertrophy, Left Ventricular
KW  - Male
KW  - Middle Aged
KW  - Muscle Proteins
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Risk Assessment
KW  - Risk Factors
KW  - Tripartite Motif Proteins
KW  - Ubiquitin-Protein Ligases
KW  - Ventricular Dysfunction, Left
KW  - Ventricular Function, Left
KW  - Ventricular Remodeling
KW  - Young Adult
TI  - Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
TY  - research article
VL  - 106
ER  -