Article
Allelic copy number variation in FSCN2 detected using allele-specific genotyping and multiplex real-time PCRs.
Investigative ophthalmology & visual science - 1 Sept 2008
Jin Zi-Bing, Mandai Michiko, Homma Kohei, Ishigami Chie, Hirami Yasuhiko, Nao-I Nobuhisa, Takahashi Masayo
Abstract excerpt
PURPOSE: Allelic copy number variation (CNV) may alter the functional effects of a heterozygous mutation. The underlying mechanisms and their roles in hereditary diseases, however, are largely unknown. In the present study an FSCN2 mutation was examined that has been reported, not only in patients with retinitis pigmentosa (RP), but also in the normal population. METHODS: Experiments were performed to investigate...
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