Letter to the EditorA novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies
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Acknowledgments
We are grateful to the patient for his participation to this study.
References (5)
- et al.
Iron dysregulation in movement disorders
Neurobiol Dis
(2012) - et al.
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation
Brain
(2007)
There are more references available in the full text version of this article.
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2015, Neurobiology of DiseaseCitation Excerpt :Subsequently, other cases were described in different parts of the world. Up to now, other 8 types of mutations have been identified in different ethnic groups (Vidal et al., 2003); (Mancuso et al., 2005);(Maciel et al., 2005); (Ohta et al., 2008); (Kubota et al., 2009); (Devos et al., 2009; Moutton et al., 2014; Nishida et al., 2014; Storti et al., 2013); they are reported in Table 1, adopting the HGVS nomenclature (den Dunnen and Antonarakis, 2000 and www.hgvs.org/mutnomen). The FTL1 gene is located on chromosome 19q13.33 and it is composed by 4 exons and 3 introns.
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