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THU0480 Candidate gene discovery in autoimmunity by using extreme phenotypes and whole exome capture
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Autores
Arcos-Burgos, M.
Johar, A.
Amaya-Amaya, J.
Mantilla, R.D.
Andrews, D.
Rojas-Villarraga, A.
Anaya, Juan-Manuel
Fecha
2014-06
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BMJ Publishing Group
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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.
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Keywords
autoimmune syndrome , Immunologyautoimmune diseases , Mendelian segregation
