@article{541c57ab3df9428fa6ca98afdf8d1d9b,
title = "Clinical evaluation of two consanguineous families with homozygous mutations in BEST1",
abstract = "To describe the clinical and genetic findings in two consanguineous families with Best vitelliform macular dystrophy (BVMD) and homozygous mutations in the bestrophin-1 (BEST1) gene.",
keywords = "Child, Child, Preschool, Chloride Channels, Consanguinity, Denmark, Electrooculography, Exons, Eye Proteins, Female, Genetic Association Studies, Genotype, Heterozygote, Homozygote, Humans, Male, Mutation, Missense, Oligonucleotide Array Sequence Analysis, Pedigree, Phenotype, Sequence Analysis, DNA, Severity of Illness Index, Spain, Tomography, Optical Coherence, Vitelliform Macular Dystrophy",
author = "Teresa Pi{\~n}eiro-Gallego and Mar{\'i}a {\'A}lvarez and In{\'e}s Pereiro and Severiano Campos and Dror Sharon and Patrik Schatz and Diana Valverde",
year = "2011",
language = "English",
volume = "17",
pages = "1607--17",
journal = "Molecular Vision",
issn = "1090-0535",
publisher = "Molecular Vision",
}