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: |