تقرير
A novel frameshift variant in TNFRSF13B in a Chinese patient with late-onset combined immunodeficiency.
| العنوان: | A novel frameshift variant in TNFRSF13B in a Chinese patient with late-onset combined immunodeficiency. |
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| المؤلفون: | Miao J; Department of Rheumatology and Clinical Immunology, Chinese Academy of Medical Sciences & Peking Union Medical College; National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology; State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital; Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China., Shen M; Department of Rheumatology and Clinical Immunology, Chinese Academy of Medical Sciences & Peking Union Medical College; National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology; State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital; Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China. |
| المصدر: | Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2023 Jun 01; Vol. 62 (6), pp. e196-e198. |
| نوع المنشور: | Case Reports; Letter; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press Country of Publication: England NLM ID: 100883501 Publication Model: Print Cited Medium: Internet ISSN: 1462-0332 (Electronic) Linking ISSN: 14620324 NLM ISO Abbreviation: Rheumatology (Oxford) Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Oxford, UK : Avenel, N.J. : Oxford University Press ; Distributed by Mercury International, c1999- |
| مواضيع طبية MeSH: | Transmembrane Activator and CAML Interactor Protein*, Humans ; East Asian People ; Homozygote ; Mutation ; Pedigree ; Severe Combined Immunodeficiency/genetics |
| المشرفين على المادة: | 0 (TNFRSF13B protein, human) 0 (Transmembrane Activator and CAML Interactor Protein) |
| تواريخ الأحداث: | Date Created: 20221205 Date Completed: 20230613 Latest Revision: 20230613 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1093/rheumatology/keac681 |
| PMID: | 36469306 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1462-0332 |
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| DOI: | 10.1093/rheumatology/keac681 |