Article
Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren's syndrome.
Journal of translational medicine - 2 Jun 2015
Johar Angad S, Mastronardi Claudio, Rojas-Villarraga Adriana, Patel Hardip R, Chuah Aaron, Peng Kaiman, Higgins Angela, Milburn Peter, Palmer Stephanie, Silva-Lara Maria Fernanda, Velez Jorge I, Andrews Dan, Field Matthew, Huttley Gavin, Goodnow Chris, Anaya Juan-Manuel, Arcos-Burgos Mauricio
Abstract excerpt
BACKGROUND: Multiple autoimmune syndrome (MAS), an extreme phenotype of autoimmune disorders, is a very well suited trait to tackle genomic variants of these conditions. Whole exome sequencing (WES) is a widely used strategy for detection of protein coding and splicing variants associated with inherited diseases. METHODS: The DNA of eight patients affected by MAS [all of whom presenting with Sjögren's syndrome...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.