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Whole gene sequencing identifies deep-intronic variants with potential function...
Almeida, Rita Mendes de; Tavares, Joana; Martins, Sandra; Carvalho, Teresa; Enguita, Francisco J.; Brito, Dulce; Fonseca, Maria Carmo; Lopes, Luís RochaHigh throughput sequencing technologies have revolutionized the identification of mutations responsible for genetic diseases such as hypertrophic cardiomyopathy (HCM). However, approximately 50% of individuals with a clinical diagnosis of HCM have no causal mutation identified. This may be due to the presence of pathogenic mutations located deep within the introns, which are not detected by conventional sequenc...
Date: 2017
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Origin: Repositório da Universidade de Lisboa