A case of Refsum disease with atypical clinical picture in family members
โ 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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๐ SIMILAR VOLUMES
Normal family members of eight diagnosed patients suffering from alpha-chain disease had been investigated by immunoelectrophoresis for abnormal alpha-chain protein in their serum. The pattern was demonstrated in four families only, of different members, but all are of the first-degree relationship.
## 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