title: SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.
authors.affiliation: Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
authors.forename: Fanny
authors.initials: F
authors.lastname: Morice-Picard
authors.affiliation: Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
authors.forename: Eulalie
authors.initials: E
authors.lastname: Lasseaux
authors.affiliation: Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: François
authors.affiliation: Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France.
authors.forename: Delphine
authors.initials: D
authors.lastname: Simon
authors.affiliation: Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Rooryck
authors.affiliation: Service de Génétique Médicale, CHU de Toulouse, Toulouse, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Bieth
authors.affiliation: Département de Biochimie et Génétique, LUNAM Université d'Angers, CHU Angers, Angers, France.
authors.forename: Estelle
authors.initials: E
authors.lastname: Colin
authors.affiliation: Département de Biochimie et Génétique, LUNAM Université d'Angers, CHU Angers, Angers, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonneau
authors.affiliation: Unité de Génétique Médicale, CH de Vannes, Vannes, France.
authors.forename: Hubert
authors.initials: H
authors.lastname: Journel
authors.affiliation: Department of Ophthalmology, Ghent University Hospital & Ghent University, Ghent, Belgium.
authors.forename: Sophie
authors.initials: S
authors.lastname: Walraedt
authors.affiliation: Department of Ophthalmology, Ghent University Hospital & Ghent University, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital & Ghent University, Ghent, Belgium.
authors.forename: Bart P
authors.initials: BP
authors.lastname: Leroy
authors.affiliation: Department of Pediatric Ophthalmology, Queen Fabiola Children's University Hospital, Brussels, Belgium.
authors.forename: Francoise
authors.initials: F
authors.lastname: Meire
authors.affiliation: Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.affiliation: Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France. Electronic address: benoit.arveiler@u-bordeaux2.fr.
authors.forename: Benoit
authors.initials: B
authors.lastname: Arveiler
mesh_terms: D000293:Adolescent; D016115:Albinism, Oculocutaneous / Q000145:classification* / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D055815:Young Adult
chemical_list: D017920:Antiporters; C506584:SLC24A5 protein, human