mutation (4) Patients (4) Human beings (4) Patients (4) Mutation (4) acide aminé (3) famille (3) Families (3) Family (3) mise sous écran protecteur (2) analyse (2) gène (2) ADN (2) Deletion (2) Cases (2) Phenotype (2) Visual acuity (2) Retinal (Visual pigment) (2) Proteins (2) Mice (2) Eye (2) Epithelium (2) DNA (2) Cataract (2) Amino acid sequence (2) Cases (2) Analysis (2) Substitution (2) cataracte (2) vertébré (1)