Article
Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy.
Human genetics - 1 Jul 2000
Ayyagari R, Kakuk L E, Bingham E L, Szczesny J J, Kemp J, Toda Y, Felius J, Sieving P A
Abstract excerpt
Blue cone monochromacy (BCM) is an X-linked ocular disease characterized by poor visual acuity, nystagmus, and photodysphoria in males with severely reduced color discrimination. Deletions, rearrangements and point mutations in the red and green pigment genes have been implicated in causing BCM. We assessed the spectrum of genetic alterations in ten families with BCM by Southern blot, polymerase chain reaction,...
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