TY - GEN AU - Testa,F AU - Rossi,S AU - Passerini,I AU - Sodi,A AU - Di Iorio,V AU - Interlandi,E AU - Della Corte,M AU - Menchini,U AU - Rinaldi,E AU - Torricelli,F AU - Simonelli,F TI - A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene SN - 1468-2079 PY - 2008///1203 KW - Adult KW - Bestrophins KW - Child KW - Child, Preschool KW - Chloride Channels KW - genetics KW - Corneal Dystrophies, Hereditary KW - DNA Mutational Analysis KW - methods KW - Electrooculography KW - instrumentation KW - Eye Proteins KW - Female KW - Genetic Linkage KW - Genotype KW - Humans KW - Male KW - Mutation, Missense KW - Pedigree N1 - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1136/bjo.2008.143776 ER -