Article
A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.
Biochemical and biophysical research communications - 12 Sept 2003
Shimizu Atsushi, Asakawa Shuichi, Sasaki Takashi, Yamazaki Satoru, Yamagata Hidehisa, Kudoh Jun, Minoshima Shinsei, Kondo Ikuko, Shimizu Nobuyoshi
Abstract excerpt
We identified a novel giant gene encoding a transmembrane protein with CUB and sushi multiple domains on the human chromosome 8q23.3-q24.1 in which benign adult familial myoclonic epilepsy type 1 (BAFME1/FAME, OMIM:601068) has been mapped. This giant gene consists of 73 exons and spans over 1.2Mb on the genomic DNA region. It showed significant homology to two genes, CSMD1 gene on 8p23 and CSMD2 gene on 1p34, at...
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