Academic Journal
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and difference
العنوان: | Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and difference |
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المؤلفون: | Kutukculer, Necil, Topyildiz, Ezgi, Berdeli, Afig, Guven Bilgin, Burcu, Aykut, Ayca, Edeer Karaca, Neslihan, Durmaz, Asude |
بيانات النشر: | Wiley |
سنة النشر: | 2021 |
المجموعة: | Ege University Institutional Repository |
مصطلحات موضوعية: | APLAID, CVID, FCAS3, PLAID, PLCG2 |
الوصف: | We suggest PLAID, APLAID, and FCAS3 have to be considered as different aspects of the same underlying condition, because of our long-term clinical and genetical experiences. Some CVID patients have the same disease-causing mutations in PLCG2 gene, so it may be better to define all of them as "PLCG2deficiency." ; The Jeffrey Modell Foundation (JMF) ; This work was partly supported by The Jeffrey Modell Foundation (JMF). The authors thank The Jeffrey Modell Foundation for their precious support. |
نوع الوثيقة: | article in journal/newspaper |
اللغة: | English |
تدمد: | 2050-0904 |
Relation: | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Clinical Case Reports; https://doi.org/10.1002/ccr3.3934; https://hdl.handle.net/11454/69581 |
DOI: | 10.1002/ccr3.3934 |
الاتاحة: | https://hdl.handle.net/11454/69581 https://doi.org/10.1002/ccr3.3934 |
Rights: | open |
رقم الانضمام: | edsbas.ACF473C6 |
قاعدة البيانات: | BASE |
تدمد: | 20500904 |
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DOI: | 10.1002/ccr3.3934 |