دورية أكاديمية

Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus

التفاصيل البيبلوغرافية
العنوان: Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
المؤلفون: Simon H. Jiang, Vicki Athanasopoulos, Julia I. Ellyard, Aaron Chuah, Jean Cappello, Amelia Cook, Savit B. Prabhu, Jacob Cardenas, Jinghua Gu, Maurice Stanley, Jonathan A. Roco, Ilenia Papa, Mehmet Yabas, Giles D. Walters, Gaetan Burgio, Kathryn McKeon, James M. Byers, Charlotte Burrin, Anselm Enders, Lisa A. Miosge, Pablo F. Canete, Marija Jelusic, Velibor Tasic, Adrian C. Lungu, Stephen I. Alexander, Arthur R. Kitching, David A. Fulcher, Nan Shen, Todor Arsov, Paul A. Gatenby, Jeff J. Babon, Dominic F. Mallon, Carmen de Lucas Collantes, Eric A. Stone, Philip Wu, Matthew A. Field, Thomas D. Andrews, Eun Cho, Virginia Pascual, Matthew C. Cook, Carola G. Vinuesa
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
بيانات النشر: Nature Portfolio, 2019.
سنة النشر: 2019
المجموعة: LCC:Science
مصطلحات موضوعية: Science
الوصف: Function-altering variants of immune-related genes cause rare autoimmune syndromes, whereas their contribution to common autoimmune diseases remains uncharacterized. Here the authors show that rare variants of lupus-associated genes are present in the majority of lupus patients and healthy controls, but only the variants found in lupus patients alter gene function.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2041-1723
العلاقة: https://doaj.org/toc/2041-1723Test
DOI: 10.1038/s41467-019-10242-9
الوصول الحر: https://doaj.org/article/78a180011b6f49c096a0159adcd221f4Test
رقم الانضمام: edsdoj.78a180011b6f49c096a0159adcd221f4
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:20411723
DOI:10.1038/s41467-019-10242-9