Testa, F

A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene. [electronic resource] - The British journal of ophthalmology Nov 2008 - 1467-70 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1468-2079

10.1136/bjo.2008.143776 doi


Adult
Bestrophins
Child
Child, Preschool
Chloride Channels--genetics
Corneal Dystrophies, Hereditary--genetics
DNA Mutational Analysis--methods
Electrooculography--instrumentation
Eye Proteins--genetics
Female
Genetic Linkage
Genotype
Humans
Male
Mutation, Missense--genetics
Pedigree