| Autor: |
van de Loosdrecht, AA, van der Kleij, FGH, van Minnen, CA, Hazenberg, BPC |
| Přispěvatelé: |
Translational Immunology Groningen (TRIGR) |
| Jazyk: |
angličtina |
| Rok vydání: |
2000 |
| Předmět: |
|
| Zdroj: |
Netherlands Journal of Medicine, 56(1), 21-24. van Zuiden Communications BV. |
| ISSN: |
0300-2977 |
| Popis: |
A Turkish patient with episodic fever and thoracic pain is described in whom a homozygous M694V mutation of the MEFV gene confirmed the clinical diagnosis of familial Mediterranean fryer. The role of DNA analysis is discussed with respect to understanding the pathogenesis of the fever and assessing the risk of amyloidosis in specific mutations of the MEFV gene. (C) 2000 Elsevier Science B.V. All rights reserved. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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