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National Repository of Grey Literature 2 records found  Search took 0.01 seconds. 
Identification of genetic and molecular underpinnings of familiar form of SAA amyloidosis
 Kmochová, Tereza ; Hodaňová, Kateřina (advisor) ; Froňková, Eva (referee)
This work documents the first case of idiopathic AA amyloidosis in humans caused by mutation in the promoter region of SAA1 gene. Knowledge of the mechanism of the disease may be an indication for targeted treatment in the future. Mutations in the SAA1 promoter should be considered in all cases of idiopathic forms of AA amyloidosis in which neither the immune nor the inflammatory component of the disease are clearly present.
Detailed record
Identification of genetic and molecular underpinnings of familiar form of SAA amyloidosis
 Kmochová, Tereza ; Hodaňová, Kateřina (advisor) ; Froňková, Eva (referee)
This work documents the first case of idiopathic AA amyloidosis in humans caused by mutation in the promoter region of SAA1 gene. Knowledge of the mechanism of the disease may be an indication for targeted treatment in the future. Mutations in the SAA1 promoter should be considered in all cases of idiopathic forms of AA amyloidosis in which neither the immune nor the inflammatory component of the disease are clearly present.
Detailed record

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