Article
Rapid detection of M1S1 mutations by the protein truncation test.
Investigative ophthalmology & visual science - 1 Aug 2000
Tsujikawa M, Tsujikawa K, Maeda N, Watanabe H, Inoue Y, Mashima Y, Shimomura Y, Tano Y
Abstract excerpt
PURPOSE: To determine a method of rapid detection of M1S1 gene mutations in patients with gelatinous droplike corneal dystrophy. METHODS: Forty-one patients from 35 families with gelatinous drop-like corneal dystrophy were studied. The entire coding region of the M1S1 gene was screened using the protein truncation test (PYT), with a polymerase chain reaction fragment amplified from genomic DNA serving as a...
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