Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis

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 genet...

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Vydáno v:Sci Rep
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2017
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5473861/
https://ncbi.nlm.nih.gov/pubmed/28623311
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-03536-9
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