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Constitutional Mismatch Repair-deficiency and Whole-exome Sequencing as the Means of the Rapid Detection of the Causative MSH6 Defect

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Metadaten
Document Type:Article
Language:English
Author:J. I. Hoell, M. Gombert, S. Ginzel, S. Loth, P. Landgraf, V. Käfer, M. Streiter, A. Prokop, M. Weiss, R. Thiele, A. Borkhardt
Title translated (German):Erbliches Krebssyndrom und Gesamt-Exom-Sequenzierung als Mittel zur raschen Identifizierung des kausativen MSH6-Defekts
Parent Title (English):Klinische Pädiatrie
Volume:226
Issue:06/07
First Page:357
Last Page:361
ISSN:0300-8630
DOI:https://doi.org/10.1055/s-0034-1389905
PMID:https://pubmed.ncbi.nlm.nih.gov/25431869
Publisher:Georg Thieme Verlag
Place of publication:Stuttgart, New York
Date of first publication:2014/11/28
Note:
This work was supported by the Elterninitiative Kinderkrebsklinik e.V. Dusseldorf.
Keyword:Gesamt-Exom-Sequenzierung; erbliche Krebssyndrome; genetische Testung
childhood cancer syndrome; constitutional mismatch repair syndrome; genetic testing; whole-exome sequencing
Departments, institutes and facilities:Fachbereich Informatik
Institut für funktionale Gen-Analytik (IFGA)
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2015/04/02