TY  - JOUR 
AU  - Ochoa, Juan P.
AU  - Lopes, Luis R.
AU  - Perez‐Barbeito, Marlene
AU  - Cazón‐Varela, Laura
AU  - de la Torre‐Carpente, Maria M.
AU  - Sonicheva‐Paterson, Natalia
AU  - De Uña‐Iglesias, David
AU  - Quinn, Ellen
AU  - Kuzmina‐Krutetskaya, Svetlana
AU  - Garrote, José A.
AU  - Elliott, Perry M.
AU  - Monserrat, Lorenzo
PY  - 2020
SN  - 0009-9163
UR  - https://uvadoc.uva.es/handle/10324/66110
AB  - Despite new strategies, such as evaluating deep intronic variants and new genes in
whole-genome-sequencing studies, the diagnostic yield of genetic testing in hypertrophic
cardiomyopathy (HCM) is still around 50%. FHOD3 has emerged as a...
LA  - spa
PB  - John Wiley & Sons Ltd
KW  - Cardiología
KW  - Genética
KW  - Miocardiopatía Hipertrófica Familiar
KW  - next-generation sequencing
KW  - DNA copy-number variations
KW  - cardiomyopathies
KW  - FHOD3 protein
KW  - formins
KW  - genetic testing
KW  - next-generation sequencing
TI  - Deletions of specific exons of FHOD3 detected by next‐generation sequencing are associated with hypertrophic cardiomyopathy
DO  - 10.1111/cge.13759
ER  -