Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus

Batu, EZGİ; Koşukcu, CAN; Taşkıran, ZİHNİ; Sahin, S; Akman, S; Sözeri, B; Ünsal, E; Bilginer, Y; Kasapcopur, O; Alikaşifoğlu, M; Ozen, S

doi:10.3899/jrheum.171358

Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus

Batu E. D., Koşukcu C., Taşkıran E., Sahin S., Akman S., Sözeri B., ...Daha Fazla

JOURNAL OF RHEUMATOLOGY, cilt.45, sa.12, ss.1671-1679, 2018 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 45 Sayı: 12
Basım Tarihi: 2018
Doi Numarası: 10.3899/jrheum.171358
Dergi Adı: JOURNAL OF RHEUMATOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1671-1679
Anahtar Kelimeler: EARLY-ONSET SYSTEMIC LUPUS ERYTHEMATOSUS, MONOGENIC, COMPLEMENT SYSTEM, WHOLE EXOME SEQUENCING, HUMAN C1Q DEFICIENCY, MOLECULAR-BASIS, SUSCEPTIBILITY VARIANTS, CLINICAL PRESENTATION, C-CHAINS, A-CHAINS, GENES, IDENTIFICATION, ASSOCIATION, VALIDATION
Hacettepe Üniversitesi Adresli: Evet

Özet

Objective. Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder. Early-onset, familial, and/or syndromic SLE may reveal monogenic pathologies. The aim of this study was to examine genetic associations in patients with early-onset or familial SLE.