Article
Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy.
Molecular brain - 10 Jun 2011
Sasaki Hidenao, Emi Mitsuru, Iijima Hiroshi, Ito Noriko, Sato Hidenori, Yabe Ichiro, Kato Takeo, Utsumi Jun, Matsubara Kenichi
Abstract excerpt
BACKGROUND: Multiple system atrophy (MSA) is a sporadic disease. Its pathogenesis may involve multiple genetic and nongenetic factors, but its etiology remains largely unknown. We hypothesized that the genome of a patient with MSA would demonstrate copy number variations (CNVs) in the genes or genomic regions of interest. To identify genomic alterations increasing the risk for MSA, we examined a pair of...
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