Academic Journal
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
| العنوان: | Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus |
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| 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 |
| سنة النشر: | 2019 |
| المجموعة: | Directory of Open Access Journals: DOAJ Articles |
| 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 in journal/newspaper |
| اللغة: | English |
| تدمد: | 2041-1723 |
| Relation: | https://doi.org/10.1038/s41467-019-10242-9; https://doaj.org/toc/2041-1723; https://doaj.org/article/78a180011b6f49c096a0159adcd221f4 |
| DOI: | 10.1038/s41467-019-10242-9 |
| الاتاحة: | https://doi.org/10.1038/s41467-019-10242-9 https://doaj.org/article/78a180011b6f49c096a0159adcd221f4 |
| رقم الانضمام: | edsbas.93B32560 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 20411723 |
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| DOI: | 10.1038/s41467-019-10242-9 |