Article
Deep intronic mutations and human disease.
Human genetics - 1 Sept 2017
Vaz-Drago Rita, Custódio Noélia, Carmo-Fonseca Maria
Abstract excerpt
Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a substantial proportion of patients, sequence information restricted to exons and exon-intron boundaries fails to identify the genetic cause of the disease. Here we review evidence from mRNA analysis and entire genomic sequencing indicating that pathogenic mutations can occur deep within the introns of over 75 disease-associated...
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