| Literature DB >> 11694876 |
S E Holmes1, E O'Hearn, A Rosenblatt, C Callahan, H S Hwang, R G Ingersoll-Ashworth, A Fleisher, G Stevanin, A Brice, N T Potter, C A Ross, R L Margolis.
Abstract
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 gene involved in the formation of junctional membrane structures.Entities:
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Year: 2001 PMID： 11694876 DOI： 10.1038/ng760
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330