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Title:

KMT2B rare missense variants in generalized dystonia.

Document type:
Journal Article; Article
Author(s):
Zech, Michael; Jech, Robert; Havránková, Petra; Fe?íková, Anna; Berutti, Riccardo; Urgo?ík, Du?an; Kemlink, David; Strom, Tim M; Roth, Jan; R??i?ka, Ev?en; Winkelmann, Juliane
Abstract:
Recently a novel syndrome of childhood-onset generalized dystonia originating from mutations in lysine-specific methyltransferase 2B (KMT2B) has been reported.We sequenced the exomes of 4 generalized dystonia-affected probands recruited from a Prague movement disorders center (Czech Republic). Bioinformatics analyses were conducted to select candidate causal variants in described dystonia-mutated genes. After cosegregation testing, checklists from the American College of Medical Genetics and Gen...     »
Journal title abbreviation:
Mov Disord
Year:
2017
Journal volume:
32
Journal issue:
7
Pages contribution:
1087-1091
Language:
eng
Fulltext / DOI:
doi:10.1002/mds.27026
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/28520167
Print-ISSN:
0885-3185
TUM Institution:
Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann); Neurologische Klinik und Poliklinik
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