A homozygous M694V mutation of the MEFV gene in a patient with periodic fever and thoracic pain

Authors
van de Loosdrecht, AA van der Kleij, FGH van Minnen, CA Hazenberg, BPC
Citation
Aa. Van De Loosdrecht et al., A homozygous M694V mutation of the MEFV gene in a patient with periodic fever and thoracic pain, NETH J MED, 56(1), 2000, pp. 21-24
Citations number
15
Categorie Soggetti
General & Internal Medicine
Journal title
NETHERLANDS JOURNAL OF MEDICINE
ISSN journal
03002977 → ACNP
Volume
56
Issue
1
Year of publication
2000
Pages
21 - 24
Database
ISI
SICI code
0300-2977(200001)56:1<21:AHMMOT>2.0.ZU;2-#
Abstract
A Turkish patient with episodic fever and thoracic pain is described in who m a homozygous M694V mutation of the MEFV gene confirmed the clinical diagn osis 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 El sevier Science B.V. All rights reserved.