Article
Blue cone monochromacy: causative mutations and associated phenotypes.
Molecular vision - 1 Jan 2009
Gardner Jessica C, Michaelides Michel, Holder Graham E, Kanuga Naheed, Webb Tom R, Mollon John D, Moore Anthony T, Hardcastle Alison J
Abstract excerpt
PURPOSE: To perform a phenotypic assessment of members of three British families with blue cone monochromatism (BCM), and to determine the underlying molecular genetic basis of disease. METHODS: Affected members of three British families with BCM were examined clinically and underwent detailed electrophysiological and psychophysical testing. Blood samples were taken for DNA extraction. Molecular analysis involved...
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