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Title:

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.

Document type:
Article; Journal Article
Author(s):
Kolarova, Hana; Tan, Jing; Strom, Tim M; Meitinger, Thomas; Wagner, Matias; Klopstock, Thomas
Abstract:
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) are a group of clinically and genetically heterogeneous diseases characterized by iron overload in basal ganglia and progressive neurodegeneration. Little is known about the epidemiology of NBIA disorders. In the absence of large-scale population-based studies, obtaining reliable epidemiological data requires innovative approaches. METHODS: All pathogenic variants were collected from the 13 genes associated with autosomal recessiv...     »
Journal title abbreviation:
EBioMedicine
Year:
2022
Journal volume:
77
Fulltext / DOI:
doi:10.1016/j.ebiom.2022.103869
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/35180557
TUM Institution:
617; Institut für Humangenetik
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