Deficiency of Complement 1r subcomponent in early-onset SLE: Role for disease-modifying alleles in a monogenic disease

OBJECTIVE: To identify a genetic cause of early-onset systemic lupus erythematosus (SLE) in a large consanguineous family from Turkey and to study the mechanisms of disease. METHODS: We performed whole exome sequencing (WES) and SNP array genotyping in affected and unaffected family members. Protein...

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Veröffentlicht in:Arthritis Rheumatol
Hauptverfasser: Demirkaya, Erkan, Zhou, Qing, Smith, Carolyne K., Ombrello, Michael J., Deuitch, Natalie, Tsai, Wanxia L., Hoffmann, Patrycja, Remmers, Elaine F., Takeuchi, Masaki, Park, Yong Hwan, Chae, JaeJin, Barut, Kenan, Simsek, Dogan, Adrovic, Amra, Sahin, Sezgin, Caliskan, Salim, Chandrasekharappa, Settara C., Hasni, Sarfaraz A, Ombrello, Amanda K., Gadina, Massimo, Kastner, Daniel L., Kaplan, Mariana J., Kasapcopur, Ozgur, Aksentijevich, Ivona
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2017
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5609811/
https://ncbi.nlm.nih.gov/pubmed/28544690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/art.40158
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