Ítem
Solo Metadatos
SAT0015 Novel and rare mutations linked to polyautoimmunity
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Autores
Johar, A.
Sarmiento-Monroy, J.C.
Rojas-Villarraga, A.
Silva-Lara, M.F.
Patel, H.R.
Mantilla, R.D.
Mastronardi, C.
Arcos-Burgos, M.
Anaya, Juan-Manuel
Fecha
2016-06
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BMJ Publishing Group
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Abstract
Background Polyautoimmunity (i.e., the presence of two or more autoimmune diseases in a single patient) and familial autoimmunity (i.e., diverse autoimmune diseases in a nuclear family) represent extreme phenotypes ideal for identifying major genomic variants contributing to autoimmunity (1–3). Whole Exome Sequencing (WES) and linkage analysis are well suited for this purpose due to its strong resolution upon familial segregation patterns of functional protein coding and splice variants
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Keywords
Polyautoimmunity , autoimmune diseases , extreme phenotypes
