Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization
Bauer, Peter, Winner, Beate
, Schüle, Rebecca, Bauer, Claudia, Häfele, Veronika, Hehr, Ute, Bonin, Michael, Walter, Michael , Karle, Kathrin, Ringer, Thomas M., Rieß, Olaf, Winkler, Jürgen and Schöls, Ludger
(2009)
Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.
neurogenetics 10 (1), pp. 43-48.
Date of publication of this fulltext: 19 Dec 2024 12:11
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| Item type | Article | ||||
| Journal or Publication Title | neurogenetics | ||||
| Publisher: | SPRINGER | ||||
|---|---|---|---|---|---|
| Place of Publication: | NEW YORK | ||||
| Volume: | 10 | ||||
| Number of Issue or Book Chapter: | 1 | ||||
| Page Range: | pp. 43-48 | ||||
| Date | 2009 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Neurologie | ||||
| Identification Number |
| ||||
| Keywords | HEREDITARY SPASTIC PARAPLEGIA; THIN CORPUS-CALLOSUM; MUTATIONS; DISEASE; REARRANGEMENTS; MLPA; FREQUENT; DOSAGE; ASSAY; Hereditary spastic paraplegia type 11; Genomic deletions; Tiling array; High resolution | ||||
| 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 | 67463 |
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