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...

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Detalles Bibliográficos
Autores principales: Schuh, Elisabeth, Lohse, Peter, Ertl-Wagner, Birgit, Witt, Matthias, Krumbholz, Markus, Frankenberger, Marion, Gerdes, Lisa-Ann, Hohlfeld, Reinhard, Kümpfel, Tania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4436598/
https://www.ncbi.nlm.nih.gov/pubmed/26020059
http://dx.doi.org/10.1212/NXI.0000000000000109

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4436598/
https://www.ncbi.nlm.nih.gov/pubmed/26020059
http://dx.doi.org/10.1212/NXI.0000000000000109

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