Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14

OBJECTIVE: To characterize the clinical features and neuropathology associated with recessive VAC14 mutations. METHODS: Whole‐exome sequencing was used to identify the genetic etiology of a rapidly progressive neurological disease presenting in early childhood in two deceased siblings with distinct...

詳細記述

保存先:
書誌詳細
出版年:Ann Clin Transl Neurol
主要な著者: Stutterd, Chloe, Diakumis, Peter, Bahlo, Melanie, Fanjul Fernandez, Miriam, Leventer, Richard J., Delatycki, Martin, Amor, David, Chow, Chung W., Stephenson, Sarah, Meisler, Miriam H., Mclean, Catriona, Lockhart, Paul J.
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2017
主題:
Research Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5740235/
https://ncbi.nlm.nih.gov/pubmed/29296614
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.487
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