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Titel:

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

Dokumenttyp:
Article; Journal Article
Autor(en):
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...     »
Zeitschriftentitel:
EBioMedicine
Jahr:
2022
Band / Volume:
77
Volltext / DOI:
doi:10.1016/j.ebiom.2022.103869
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/35180557
TUM Einrichtung:
617; Institut für Humangenetik
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