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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.

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Other URL: http://doi.org/10.1002/humu.23162


Abstract

Deletions and duplications of genomic DNA contribute to evolution, phenotypic diversity, and human disease. The underlying mechanisms are incompletely understood. We identified deletions of exon 10 of the SPAST gene in two unrelated families with hereditary spastic paraplegia. We excluded a founder event, but observed that the breakpoints map to identical repeat regions. These regions likely ...

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Item type:Article
Date:2017
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1002/humu.23162DOI
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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