تقرير
First report of MEFV gene duplication in a patient with familial Mediterranean fever.
| العنوان: | First report of MEFV gene duplication in a patient with familial Mediterranean fever. |
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| المؤلفون: | Mechin D; CHU Montpellier, University of Montpellier, Department of Medical Genetics, Rare Diseases and Personalized Medicine, Rare and Autoinflammatory Diseases Unit, CEREMAIA Reference Centre, Montpellier, and IRMB, University of Montpellier, INSERM, CHU Montpellier, France., Durinikova A; CHU Montpellier, University of Montpellier, Department of Medical Genetics, Rare Diseases and Personalized Medicine, Rare and Autoinflammatory Diseases Unit, CEREMAIA Reference Centre, Montpellier, France., Boursier G; CHU Montpellier, University of Montpellier, Department of Medical Genetics, Rare Diseases and Personalized Medicine, Rare and Autoinflammatory Diseases Unit, CEREMAIA Reference Centre, Montpellier, France., André M; CHU Clermont-Ferrand, Service de Médecine Interne, Hôpital Gabriel Montpied, Clermont-Ferrand, and Université Clermont Auvergne, Inserm U1071, INRA USC2018, M2iSH, Clermont-Ferrand, France., Touitou I; CHU Montpellier, University of Montpellier, Department of Medical Genetics, Rare Diseases and Personalized Medicine, Rare and Autoinflammatory Diseases Unit, CEREMAIA Reference Centre, Montpellier, and IRMB, University of Montpellier, INSERM, CHU Montpellier, France., Sarrabay G; CHU Montpellier, University of Montpellier, Department of Medical Genetics, Rare Diseases and Personalized Medicine, Rare and Autoinflammatory Diseases Unit, CEREMAIA Reference Centre, Montpellier, and IRMB, University of Montpellier, INSERM, CHU Montpellier, France. guillaume.sarrabay@inserm.fr. |
| المصدر: | Clinical and experimental rheumatology [Clin Exp Rheumatol] 2020 Sep-Oct; Vol. 38 Suppl 127 (5), pp. 129-130. Date of Electronic Publication: 2020 Dec 10. |
| نوع المنشور: | Case Reports; Letter |
| اللغة: | English |
| بيانات الدورية: | Publisher: Clinical And Experimental Rheumatology S.A.S Country of Publication: Italy NLM ID: 8308521 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0392-856X (Print) Linking ISSN: 0392856X NLM ISO Abbreviation: Clin Exp Rheumatol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Pisa : Clinical And Experimental Rheumatology S.A.S Original Publication: Pisa, Italy : Pacini editore, [1983- |
| مواضيع طبية MeSH: | Familial Mediterranean Fever*/complications , Familial Mediterranean Fever*/diagnosis , Familial Mediterranean Fever*/genetics, Gene Duplication ; Heterozygote ; Humans ; Mutation ; Pyrin/genetics |
| المشرفين على المادة: | 0 (MEFV protein, human) 0 (Pyrin) |
| تواريخ الأحداث: | Date Created: 20201217 Date Completed: 20210222 Latest Revision: 20210222 |
| رمز التحديث: | 20240829 |
| PMID: | 33331269 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 0392-856X |
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