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Genetics of the Neuronal Ceroid Lipofuscinoses (Batten disease)

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults, and are grouped together by similar clinical features and the accumulation of autofluorescent storage material. More than a dozen genes containing over 430 mutations underl...

詳細記述

保存先:
書誌詳細
出版年:Biochim Biophys Acta
主要な著者: Mole, Sara E, Cotman, Susan L.
フォーマット: Artigo
言語:Inglês
出版事項: 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4567481/
https://ncbi.nlm.nih.gov/pubmed/26026925
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2015.05.011
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