Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. [electronic resource]
Producer: 20030103Description: 322-3 p. digitalISSN:- 1098-1004
- Blindness -- congenital
- Cyclic GMP -- metabolism
- Female
- Finland
- Founder Effect
- Guanine
- Guanylate Cyclase -- genetics
- Humans
- Linkage Disequilibrium -- genetics
- Male
- Mutation -- genetics
- Nuclear Family
- Optic Atrophies, Hereditary -- enzymology
- Pedigree
- Polymorphism, Single Nucleotide -- genetics
- Sequence Deletion -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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