A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2
Holmes, Susan E. ; O'Hearn, Elizabeth ; Rosenblatt, Adam ; Callahan, Colleen ; Hwang, Hyon S. ; Ingersoll-Ashworth, Roxann G. ; Fleisher, Adam ; Stevanin, Giovanni ; Brice, Alexis ; Potter, Nicholas T. ; Ross, Christopher A. ; Margolis, Russell L.
[s.l.] : Nature Publishing Group
Published 2001
[s.l.] : Nature Publishing Group
Published 2001
| ISSN: |
1546-1718
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|---|---|
| Source: |
Nature Archives 1869 - 2009
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| Topics: |
Biology
Medicine
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| Notes: |
[Auszug] We recently described a disorder termed Huntington disease–like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W). We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a ...
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798293146975600640 |
|---|---|
| autor | Holmes, Susan E. O'Hearn, Elizabeth Rosenblatt, Adam Callahan, Colleen Hwang, Hyon S. Ingersoll-Ashworth, Roxann G. Fleisher, Adam Stevanin, Giovanni Brice, Alexis Potter, Nicholas T. Ross, Christopher A. Margolis, Russell L. |
| autorsonst | Holmes, Susan E. O'Hearn, Elizabeth Rosenblatt, Adam Callahan, Colleen Hwang, Hyon S. Ingersoll-Ashworth, Roxann G. Fleisher, Adam Stevanin, Giovanni Brice, Alexis Potter, Nicholas T. Ross, Christopher A. Margolis, Russell L. |
| book_url | http://dx.doi.org/10.1038/ng760 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLZ231747519 |
| insertion_date | 1911-02-24 |
| issn | 1546-1718 |
| journal_name | Nature genetics |
| materialart | 1 |
| notes | [Auszug] We recently described a disorder termed Huntington disease–like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W). We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a ... |
| package_name | Nature Publishing Group |
| publikationsjahr_anzeige | 2001 |
| publikationsjahr_facette | 2001 |
| publikationsjahr_intervall | 7999:2000-2004 |
| publikationsjahr_sort | 2001 |
| publikationsort | [s.l.] |
| publisher | Nature Publishing Group |
| reference | 29 (2001), S. 377-378 |
| search_space | articles |
| shingle_author_1 | Holmes, Susan E. O'Hearn, Elizabeth Rosenblatt, Adam Callahan, Colleen Hwang, Hyon S. Ingersoll-Ashworth, Roxann G. Fleisher, Adam Stevanin, Giovanni Brice, Alexis Potter, Nicholas T. Ross, Christopher A. Margolis, Russell L. |
| shingle_author_2 | Holmes, Susan E. O'Hearn, Elizabeth Rosenblatt, Adam Callahan, Colleen Hwang, Hyon S. Ingersoll-Ashworth, Roxann G. Fleisher, Adam Stevanin, Giovanni Brice, Alexis Potter, Nicholas T. Ross, Christopher A. Margolis, Russell L. |
| shingle_author_3 | Holmes, Susan E. O'Hearn, Elizabeth Rosenblatt, Adam Callahan, Colleen Hwang, Hyon S. Ingersoll-Ashworth, Roxann G. Fleisher, Adam Stevanin, Giovanni Brice, Alexis Potter, Nicholas T. Ross, Christopher A. Margolis, Russell L. |
| shingle_author_4 | Holmes, Susan E. O'Hearn, Elizabeth Rosenblatt, Adam Callahan, Colleen Hwang, Hyon S. Ingersoll-Ashworth, Roxann G. Fleisher, Adam Stevanin, Giovanni Brice, Alexis Potter, Nicholas T. Ross, Christopher A. Margolis, Russell L. |
| shingle_catch_all_1 | Holmes, Susan E. O'Hearn, Elizabeth Rosenblatt, Adam Callahan, Colleen Hwang, Hyon S. Ingersoll-Ashworth, Roxann G. Fleisher, Adam Stevanin, Giovanni Brice, Alexis Potter, Nicholas T. Ross, Christopher A. Margolis, Russell L. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 Nature Publishing Group [Auszug] We recently described a disorder termed Huntington disease–like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W). We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a ... 1546-1718 15461718 |
| shingle_catch_all_2 | Holmes, Susan E. O'Hearn, Elizabeth Rosenblatt, Adam Callahan, Colleen Hwang, Hyon S. Ingersoll-Ashworth, Roxann G. Fleisher, Adam Stevanin, Giovanni Brice, Alexis Potter, Nicholas T. Ross, Christopher A. Margolis, Russell L. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 Nature Publishing Group [Auszug] We recently described a disorder termed Huntington disease–like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W). We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a ... 1546-1718 15461718 |
| shingle_catch_all_3 | Holmes, Susan E. O'Hearn, Elizabeth Rosenblatt, Adam Callahan, Colleen Hwang, Hyon S. Ingersoll-Ashworth, Roxann G. Fleisher, Adam Stevanin, Giovanni Brice, Alexis Potter, Nicholas T. Ross, Christopher A. Margolis, Russell L. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 Nature Publishing Group [Auszug] We recently described a disorder termed Huntington disease–like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W). We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a ... 1546-1718 15461718 |
| shingle_catch_all_4 | Holmes, Susan E. O'Hearn, Elizabeth Rosenblatt, Adam Callahan, Colleen Hwang, Hyon S. Ingersoll-Ashworth, Roxann G. Fleisher, Adam Stevanin, Giovanni Brice, Alexis Potter, Nicholas T. Ross, Christopher A. Margolis, Russell L. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 Nature Publishing Group [Auszug] We recently described a disorder termed Huntington disease–like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W). We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a ... 1546-1718 15461718 |
| shingle_title_1 | A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 |
| shingle_title_2 | A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 |
| shingle_title_3 | A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 |
| shingle_title_4 | A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 |
| sigel_instance_filter | dkfz geomar wilbert ipn albert |
| source_archive | Nature Archives 1869 - 2009 |
| timestamp | 2024-05-06T08:59:47.444Z |
| titel | A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 |
| titel_suche | A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 |
| topic | W WW-YZ |
| uid | nat_lic_papers_NLZ231747519 |