Ítem
Solo Metadatos

SAT0015 Novel and rare mutations linked to polyautoimmunity

Título de la revista
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

Directores

ISSN de la revista
Título del volumen
Editor
BMJ Publishing Group

Buscar en:

Métricas alternativas

Resumen
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
Palabras clave
Keywords
Polyautoimmunity , autoimmune diseases , extreme phenotypes
Buscar en: