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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Detaylı Bibliyografya
Yayımlandı:Arthritis Rheumatol
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2017
Konular:
Article
Online Erişim: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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