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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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Опубликовано в: :Sci Rep
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group UK 2017
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Online-ссылка: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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