Article
[Chromosome 5q31 linked corneal dystrophies: outline for a new classification].
Klinische Monatsblatter fur Augenheilkunde - 1 Mar 2001
Munier F L, Schorderet D F
Abstract excerpt
The following article is an attempt to summarise the recent genetic findings in chromosome 5q31 corneal dystrophies. It also shows the remarkable correlation between genotype and phenotype characterising them. Basically, 6 main heterozygote mutations are responsible for 6 different phenotypes, corresponding to the following 4 histologic forms of corneal deposits: a) amyloid or lattice, b) granular, c) amyloid or...
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