Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism
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منابع مشابه
Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism
Neuroferritinopathy is a rare, late-onset, dominantly inherited movement disorder caused by mutations in L-ferritin gene. It is characterized by iron and ferritin aggregate accumulation in brain, normal or low serum ferritin levels and high variable clinical feature. To date, nine causative mutations have been identified and eight of them are frameshift mutations determined by nucleotide(s) ins...
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ژورنال
عنوان ژورنال: Neurobiology of Disease
سال: 2015
ISSN: 0969-9961
DOI: 10.1016/j.nbd.2015.02.007