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A case of Refsum disease with atypical clinical picture in family members

โœ Scribed by R. Marano; P. Soliveri; B. Garavaglia; A. Antonelli; F. Girotti


Publisher
Springer Milan
Year
1989
Tongue
English
Weight
316 KB
Volume
10
Category
Article
ISSN
1590-1874

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## Objective __NLRP12__ mutations have been described in patients affected with peculiar autoinflammatory symptoms. This study was undertaken to characterize __NLRP12__ mutations in patients with autoinflammatory syndromes, particularly a novel missense mutation, p.D294E, affecting a protein sequen