دورية أكاديمية
PIGG defines the Emm blood group system
العنوان: | PIGG defines the Emm blood group system |
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المؤلفون: | William J. Lane, Judith Aeschlimann, Sunitha Vege, Christine Lomas-Francis, Anna Burgos, Helen H. Mah, Justin B. L. Halls, Peter Baeck, Peter C. Ligthart, Barbera Veldhuisen, Ripal J. Shah, Sanmukh R. Joshi, Connie M. Westhoff |
المصدر: | Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021) |
بيانات النشر: | Nature Portfolio, 2021. |
سنة النشر: | 2021 |
المجموعة: | LCC:Medicine LCC:Science |
مصطلحات موضوعية: | Medicine, Science |
الوصف: | Abstract Emm is a high incidence red cell antigen with eight previously reported Emm− probands. Anti-Emm appears to be naturally occurring yet responsible for a clinically significant acute hemolytic transfusion reaction. Previous work suggests that Emm is located on a GPI-anchored protein, but the antigenic epitope and genetic basis have been elusive. We investigated samples from a South Asian Indian family with two Emm− brothers by whole genome sequencing (WGS). Additionally, samples from four unrelated Emm− individuals were investigated for variants in the candidate gene. Filtering for homozygous variants found in the Emm− brothers and by gnomAD frequency of |
نوع الوثيقة: | article |
وصف الملف: | electronic resource |
اللغة: | English |
تدمد: | 2045-2322 |
Relation: | https://doaj.org/toc/2045-2322 |
DOI: | 10.1038/s41598-021-98090-w |
URL الوصول: | https://doaj.org/article/74df5f183e1f4e48a09153f5df5dff55 |
رقم الأكسشن: | edsdoj.74df5f183e1f4e48a09153f5df5dff55 |
قاعدة البيانات: | Directory of Open Access Journals |
تدمد: | 20452322 |
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DOI: | 10.1038/s41598-021-98090-w |