Article
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene.
The British journal of ophthalmology - 1 Jul 2000
Assink J J, de Backer E, ten Brink J B, Kohno T, de Jong P T, Bergen A A, Meire F
Abstract excerpt
AIMS: To examine a large family with an autosomal dominant fundus dystrophy and to investigate whether or not mutations in TIMP-3 gene were involved. METHODS: A large family of 58 individuals with an autosomal dominant fundus dystrophy was examined ophthalmologically. A DNA linkage analysis in the 22q12.1-q13.2 region was performed. The TIMP-3 gene was screened for mutations in all five exons. RESULTS: In this...
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