Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy (Q37230693)

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scientific article published on 17 August 2016
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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy
scientific article published on 17 August 2016

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    Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy (English)
    Ryosuke Ishimura
    Anni Laari
    Yoshinobu Ichimura
    Tarja Linnankivi
    Riikka Keski-Filppula
    Riitta Herva
    Heikki Rantala
    Anders Paetau
    Miki Obata
    Takefumi Uemura
    Thomas Karhu
    Norihisa Bizen
    Hirohide Takebayashi
    Michael J Parker
    Nadia Akawi
    Jeremy McRae
    Matthew E Hurles
    DDD Study
    Outi Kuismin
    Mitja I Kurki
    Anna-Kaisa Anttonen
    Keiji Tanaka
    Satoshi Waguri
    17 August 2016
    683-694

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