title: Pattern dystrophy in a female carrier of RP2 mutation.
authors.affiliation: a Genetics of Sensory Diseases, CHU , Montpellier , France.
authors.forename: Dina
authors.initials: D
authors.lastname: Misky
authors.affiliation: a Genetics of Sensory Diseases, CHU , Montpellier , France.
authors.forename: Tremeur
authors.initials: T
authors.lastname: Guillaumie
authors.affiliation: a Genetics of Sensory Diseases, CHU , Montpellier , France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Baudoin
authors.affiliation: b INSERM U1051, Institute des Neurosciences de Montpellier , Montpellier , France.|c Université Montpellier , Montpellier , France.
authors.forename: Béatrice
authors.initials: B
authors.lastname: Bocquet
authors.affiliation: a Genetics of Sensory Diseases, CHU , Montpellier , France.
authors.forename: Magali
authors.initials: M
authors.lastname: Beltran
authors.affiliation: d Institut Imagine, Université Paris Descartes , Paris , France.|e Hôpital Necker, Assistance Publique-Hôpitaux de Paris , Paris , France.
authors.forename: Josseline
authors.initials: J
authors.lastname: Kaplan
authors.affiliation: f Biochemistry and Molecular Biology Department , UF Génopathies, CHU Lille , Lille , France.|g UMR-S 1172, Jean-Pierre AUBERT Research Center, Université Lille , Lille , France.
authors.forename: Claire-Marie
authors.initials: CM
authors.lastname: Dhaenens
authors.affiliation: d Institut Imagine, Université Paris Descartes , Paris , France.|e Hôpital Necker, Assistance Publique-Hôpitaux de Paris , Paris , France.
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Bonnefont
authors.affiliation: a Genetics of Sensory Diseases, CHU , Montpellier , France.|b INSERM U1051, Institute des Neurosciences de Montpellier , Montpellier , France.|c Université Montpellier , Montpellier , France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Meunier
authors.affiliation: a Genetics of Sensory Diseases, CHU , Montpellier , France.|b INSERM U1051, Institute des Neurosciences de Montpellier , Montpellier , France.|c Université Montpellier , Montpellier , France.
authors.forename: Christian P
authors.initials: CP
authors.lastname: Hamel
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D019204:GTP-Binding Proteins; D006579:Heterozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D041623:Tomography, Optical Coherence
chemical_list: D005136:Eye Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C072178:RP2 protein, human; D019204:GTP-Binding Proteins