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Constitutional Mismatch Repair-deficiency and Whole-exome Sequencing as the Means of the Rapid Detection of the Causative MSH6 Defect
Document Type: | Article |
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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 |