title: Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene.
authors.affiliation: Servizio di Genetica Medica, IRCCS-Ospedale CSS, San Giovanni Rotondo, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Bisceglia
authors.forename: L
authors.initials: L
authors.lastname: d'Ambrosio
authors.forename: M R
authors.initials: MR
authors.lastname: Piemontese
authors.forename: M
authors.initials: M
authors.lastname: Carella
authors.forename: P
authors.initials: P
authors.lastname: Amati
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
authors.forename: G
authors.initials: G
authors.lastname: Pilia
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
authors.forename: L
authors.initials: L
authors.lastname: Zelante
mesh_terms: D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D005796:Genes; D006801:Humans; D007438:Introns; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D012177:Retinol-Binding Proteins / Q000235:genetics*; D054840:Retinol-Binding Proteins, Cellular; D013577:Syndrome
chemical_list: D012177:Retinol-Binding Proteins; D054840:Retinol-Binding Proteins, Cellular