Whole-genome DNA sequencing: The key to detecting a sarcomeric mutation in a ‘false genotype-negative’ family with hypertrophic cardiomyopathy

Publication date: April 2020Source: Revista Portuguesa de Cardiologia (English Edition), Volume 39, Issue 4Author(s): Ana Catarina Gomes, Pedro Santos Barbosa, Ana Coutinho, Inês Cruz, Maria Carmo-Fonseca, Luís Rocha Lopes
Source: Revista Portuguesa de Cardiologia - Category: Cardiology Source Type: research