Article
Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis.
Scientific reports - 16 Jun 2017
Maver Ales, Lavtar Polona, Ristić Smiljana, Stopinšek Sanja, Simčič Saša, Hočevar Keli, Sepčić Juraj, Drulović Jelena, Pekmezović Tatjana, Novaković Ivana, Alenka Hodžić, Rudolf Gorazd, Šega Saša, Starčević-Čizmarević Nada, Palandačić Anja, Zamolo Gordana, Kapović Miljenko, Likar Tina, Peterlin Borut
Abstract excerpt
The genetic etiology and the contribution of rare genetic variation in multiple sclerosis (MS) has not yet been elucidated. Although familial forms of MS have been described, no convincing rare and penetrant variants have been reported to date. We aimed to characterize the contribution of rare genetic variation in familial and sporadic MS and have identified a family with two sibs affected by concomitant MS and...
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