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...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
June 1995
|
| 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
|
| Author Notes: | M. Nehls, M. Schorpp, T. Boehm |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 188684299X | ||
| 003 | DE-627 | ||
| 005 | 20240703170848.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240424s1995 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1007/BF00209495 |2 doi | |
| 035 | |a (DE-627)188684299X | ||
| 035 | |a (DE-599)KXP188684299X | ||
| 035 | |a (OCoLC)1443669473 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Nehls, Michael |d 1962- |e VerfasserIn |0 (DE-588)111718465 |0 (DE-627)605240019 |0 (DE-576)308614542 |4 aut | |
| 245 | 1 | 3 | |a An intragenic deletion in the human PTPN6 gene affects transcriptional activity |c M. Nehls, M. Schorpp, T. Boehm |
| 264 | 1 | |c June 1995 | |
| 300 | |a 3 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 24.04.2024 | ||
| 520 | |a 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. | ||
| 650 | 4 | |a Illegitimate Recombination | |
| 650 | 4 | |a Internal Medicine | |
| 650 | 4 | |a Metabolic Disease | |
| 650 | 4 | |a PTPN6 Gene | |
| 650 | 4 | |a Transcriptional Activity | |
| 700 | 1 | |a Schorpp-Kistner, Marina |e VerfasserIn |0 (DE-588)1075082579 |0 (DE-627)832930326 |0 (DE-576)365914703 |4 aut | |
| 700 | 1 | |a Boehm, Thomas |d 1956- |e VerfasserIn |0 (DE-588)143082728 |0 (DE-627)642495351 |0 (DE-576)334934389 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Human genetics |d Berlin : Springer, 1976 |g 95(1995), 6, Seite 713-715 |h Online-Ressource |w (DE-627)253723973 |w (DE-600)1459188-1 |w (DE-576)072373008 |x 1432-1203 |7 nnas |a An intragenic deletion in the human PTPN6 gene affects transcriptional activity |
| 773 | 1 | 8 | |g volume:95 |g year:1995 |g number:6 |g pages:713-715 |g extent:3 |a An intragenic deletion in the human PTPN6 gene affects transcriptional activity |
| 856 | 4 | 0 | |u https://doi.org/10.1007/BF00209495 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20240424 | ||
| 993 | |a Article | ||
| 994 | |a 1995 | ||
| 998 | |g 143082728 |a Boehm, Thomas |m 143082728:Boehm, Thomas |d 50000 |e 50000PB143082728 |k 0/50000/ |p 3 |y j | ||
| 998 | |g 1075082579 |a Schorpp-Kistner, Marina |m 1075082579:Schorpp-Kistner, Marina |d 50000 |e 50000PS1075082579 |k 0/50000/ |p 2 | ||
| 999 | |a KXP-PPN188684299X |e 4515659448 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"relHost":[{"title":[{"title":"Human genetics","title_sort":"Human genetics"}],"titleAlt":[{"title":"Human genetics <Berlin>"}],"part":{"issue":"6","pages":"713-715","year":"1995","extent":"3","volume":"95","text":"95(1995), 6, Seite 713-715"},"pubHistory":["Volume 31, issue 1 (January 1976)-"],"recId":"253723973","language":["eng"],"disp":"An intragenic deletion in the human PTPN6 gene affects transcriptional activityHuman genetics","type":{"bibl":"periodical","media":"Online-Ressource"},"note":["Gesehen am 27.01.25","Ungezählte Beil.: Supplement"],"id":{"issn":["1432-1203"],"zdb":["1459188-1"],"eki":["253723973"]},"origin":[{"dateIssuedKey":"1976","publisher":"Springer ; Springer","dateIssuedDisp":"1976-","publisherPlace":"Berlin ; Heidelberg ; Berlin ; Heidelberg ; New York, NY"}],"physDesc":[{"extent":"Online-Ressource"}]}],"physDesc":[{"extent":"3 S."}],"id":{"doi":["10.1007/BF00209495"],"eki":["188684299X"]},"origin":[{"dateIssuedDisp":"June 1995","dateIssuedKey":"1995"}],"name":{"displayForm":["M. Nehls, M. Schorpp, T. Boehm"]},"language":["eng"],"recId":"188684299X","note":["Gesehen am 24.04.2024"],"type":{"bibl":"article-journal","media":"Online-Ressource"},"title":[{"title":"An intragenic deletion in the human PTPN6 gene affects transcriptional activity","title_sort":"intragenic deletion in the human PTPN6 gene affects transcriptional activity"}],"person":[{"display":"Nehls, Michael","roleDisplay":"VerfasserIn","role":"aut","family":"Nehls","given":"Michael"},{"role":"aut","display":"Schorpp-Kistner, Marina","roleDisplay":"VerfasserIn","given":"Marina","family":"Schorpp-Kistner"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Boehm, Thomas","given":"Thomas","family":"Boehm"}]} | ||
| SRT | |a NEHLSMICHAINTRAGENIC1995 | ||