Article
A novel truncating mutation of cytochrome P4501B1 (CYP1B1) gene in primary infantile glaucoma.
American journal of ophthalmology - 1 Sept 1999
Kakiuchi T, Isashiki Y, Nakao K, Sonoda S, Kimura K, Ohba N
Abstract excerpt
PURPOSE: To report a novel mutation of the CYP1B1 gene in a Japanese patient with primary infantile glaucoma. METHODS: DNA was extracted from leukocytes of six unrelated patients with primary infantile glaucoma. The coding regions of the CYP1B1 gene were amplified by polymerase chain reaction, examined by agarose gel separation and heteroduplex methods, and directly sequenced. RESULTS: One of the patients with...
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