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Titel:

[Exome diagnostics in neurology].

Dokumenttyp:
English Abstract; Journal Article; Review
Autor(en):
Zech, Michael; Wagner, Matias; Schormair, Barbara; Oexle, Konrad; Winkelmann, Juliane
Abstract:
After an impressively successful application as a research instrument, whole-exome sequencing (WES) now enters the clinical practice due to its high diagnostic, time, and economic efficiency. WES is the diagnostic method of choice for symptoms that may be due to many different monogenic causes. Neurological indications include movement disorders, especially in cases of early symptom onset, familial clustering and complex manifestation. Starting from a blood sample, enrichment and sequencing of t...     »
Zeitschriftentitel:
Nervenarzt
Jahr:
2019
Band / Volume:
90
Heft / Issue:
2
Seitenangaben Beitrag:
131-137
Volltext / DOI:
doi:10.1007/s00115-018-0667-1
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/30645660
Print-ISSN:
0028-2804
TUM Einrichtung:
Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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