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 |
تدمد: | 1462-0332 |
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DOI: | 10.1093/rheumatology/keac681 |