Ítem
Solo Metadatos

THU0480 Candidate gene discovery in autoimmunity by using extreme phenotypes and whole exome capture

Título de la revista
Autores
Arcos-Burgos, M.
Johar, A.
Amaya-Amaya, J.
Mantilla, R.D.
Andrews, D.
Rojas-Villarraga, A.
Anaya, Juan-Manuel


Fecha
2014-06

Directores

ISSN de la revista
Título del volumen
Editor
BMJ Publishing Group

Citations

Métricas alternativas

Resumen
Abstract
Background The multiple autoimmune syndrome (MAS) is defined as a condition characterized by the presence of three or more autoimmune diseases (ADs) in one patient. We demonstrated that MAS identifies extreme forms of ADs and is frequently clustered in families. MAS phenotypes present in families often displays Mendelian segregation ratios, representing crucial evidence for identifying major genes associated with autoimmunity.
Palabras clave
Keywords
autoimmune syndrome , Immunologyautoimmune diseases , Mendelian segregation
Citations