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A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy
Molecular Vision, 07/30/09
Jing Y et al. - The newly identified mutation expands the spectrum of mutations in UBIAD1 that may cause pathological corneal cholesterol deposition. Observations by in vivo laser scanning confocal microscopy and Fourier-domain OCT were consistent with the previous histopathologic descriptions of SCCD.
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