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Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions
Jahic, Amir, Hinreiner, Sophie, Emberger, Werner, Hehr, Ute, Zuchner, Stephan and Beetz, Christian
(2017)
Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.
Human Mutation 38 (3), pp. 275-278.
Date of publication of this fulltext: 20 Mar 2019 12:48
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| Item type | Article | ||||
| Journal or Publication Title | Human Mutation | ||||
| Publisher: | Wiley | ||||
|---|---|---|---|---|---|
| Place of Publication: | HOBOKEN | ||||
| Volume: | 38 | ||||
| Number of Issue or Book Chapter: | 3 | ||||
| Page Range: | pp. 275-278 | ||||
| Date | 2017 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | HEREDITARY SPASTIC PARAPLEGIA; AMELOGENESIS IMPERFECTA; MOLECULAR-MECHANISMS; DUPLICATIONS; DISEASE; RECOMBINATION; VARIANTS; DIVERSE; GENOMES; EXON; copy-number variant; deletion; doublet; SPAST | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 38663 |
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