An intragenic deletion in the human PTPN6 gene affects transcriptional activity
An intragenic deletion in the human PTPN6 gene is described. The PTPN6 gene maps to chromosome 12p12-13 and is shown to possess two alternative first exons. A 1.7-kb deletion occurring in the intron between the two alternatively used first exons is the result of an illegitimate recombination between...
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| Main Authors: | , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
June 1995
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| In: |
Human genetics
Year: 1995, Volume: 95, Issue: 6, Pages: 713-715 |
| ISSN: | 1432-1203 |
| DOI: | 10.1007/BF00209495 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/BF00209495
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| Author Notes: | M. Nehls, M. Schorpp, T. Boehm |
| Summary: | An intragenic deletion in the human PTPN6 gene is described. The PTPN6 gene maps to chromosome 12p12-13 and is shown to possess two alternative first exons. A 1.7-kb deletion occurring in the intron between the two alternatively used first exons is the result of an illegitimate recombination between two Alu-type repeats. The deletion increases the transcriptional activity of the distal promotor. |
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| Item Description: | Gesehen am 24.04.2024 |
| Physical Description: | Online Resource |
| ISSN: | 1432-1203 |
| DOI: | 10.1007/BF00209495 |