article_metadata: Emmanuelle Lacassagne Aurore Dhuez Florence Rigaudière Anouk Dansault Christelle Vêtu Karine Bigot Véronique Vieira Bernard Puech Sabine Defoort-Dhellemmes Marc Abitbol
article_metadata: Mol Vis
article_metadata: 2011 Jan 29;17:309-22.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/21293734/
article_metadata: Chloride Channels / genetics Eye Proteins / genetics Mutation Vitelliform Macular Dystrophy / genetics
article_metadata: Chloride Channels / genetics Eye Proteins / genetics Mutation Vitelliform Macular Dystrophy / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Adult Alleles Bestrophins Child Electrooculography / methods Electroretinography / methods Exons Family Health Female France Humans Male Middle Aged Pedigree Phenotype Retina / pathology Sequence Analysis, DNA Tomography, Optical Coherence / methods BEST1 protein, human Bestrophins Chloride Channels Eye Proteins
article_metadata: PMC3032275
article_metadata: 21293734
article_metadata: Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy
article_metadata: 2011