Emmanuelle Lacassagne Aurore Dhuez Florence Rigaudière Anouk Dansault Christelle Vêtu Karine Bigot Véronique Vieira Bernard Puech Sabine Defoort-Dhellemmes Marc Abitbol
Mol Vis
2011 Jan 29;17:309-22.
CC BY
https://pubmed.ncbi.nlm.nih.gov/21293734/
Chloride Channels / genetics Eye Proteins / genetics Mutation Vitelliform Macular Dystrophy / genetics
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
PMC3032275
21293734
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy
2011