Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

被引：0

作者：

Sulaiman M Al-Mayouf

Asma Sunker

Reem Abdwani

Safiya Al Abrawi

Fathiya Almurshedi

Nadia Alhashmi

Abdullah Al Sonbul

Wafaa Sewairi

Aliya Qari

Eiman Abdallah

Mohammed Al-Owain

Saleh Al Motywee

Hanan Al-Rayes

Mais Hashem

Hanif Khalak

Latifa Al-Jebali

Fowzan S Alkuraya

机构：

[1] Rheumatology Section,Department of Pediatrics

[2] King Faisal Specialist Hospital and Research Center,Department of Genetics

[3] King Faisal Specialist Hospital and Research Center,Department of Child Health

[4] Sultan Qaboos University Hospital,Department of Child Health

[5] Royal Hospital,Department of Genetics

[6] Sultan Qaboos University Hospital,Division of Rheumatology, Department of Medicine

[7] King Fahad National Guard Hospital and King Abdullah International Medical Research Center,Department of Medical Genetics

[8] King Faisal Specialist Hospital,Department of Anatomy and Cell Biology

[9] College of Medicine,Department of Medicine

[10] Alfaisal University,Department of Pediatrics

[11] Riyadh Military Hospital,undefined

[12] King Khalid University Hospital and College of Medicine,undefined

[13] King Saud University,undefined

来源：

Nature Genetics | 2011年 / 43卷

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摘要：

Fowzan Alkuraya and colleagues report the identification of a truncating mutation in DNASE1L3 in six families with an autosomal recessive Mendelian form of systemic lupus erythematosus, a complex autoimmune disease.

引用

页码：1186 / 1188

页数：2

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