Expanding spectrum of neurologic manifestations in patients withNLRP3low-penetrance mutations
نویسندگان
چکیده
منابع مشابه
Expanding spectrum of neurologic manifestations in patients with NLRP3 low-penetrance mutations
OBJECTIVE To evaluate the frequency of the cryoporin/NLRP3 low-penetrance mutations V198M and Q703K in patients who reported at least 2 symptoms compatible with cryopyrin-associated periodic syndromes (CAPS) and to characterize the phenotype in mutation-positive patients. METHODS The frequency of the V198M and Q703K mutations was investigated in a selected cohort of 108 patients from our neur...
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ژورنال
عنوان ژورنال: Neurology - Neuroimmunology Neuroinflammation
سال: 2015
ISSN: 2332-7812
DOI: 10.1212/nxi.0000000000000109