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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Sci Rep
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2017
Aiheet:
Article
Linkit: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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