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SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.
Morice-Picard, Fanny; Lasseaux, Eulalie; François, Stéphane; Simon, Delphine; Rooryck, Caroline; Bieth, Eric; Colin, Estelle; Bonneau, Dominique; Journel, Hubert; Walraedt, Sophie; Leroy, Bart P; Meire, Francoise; Lacombe, Didier; Arveiler, Benoit.
Affiliation
  • Morice-Picard F; Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
  • Lasseaux E; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
  • François S; Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France.
  • Simon D; Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France.
  • Rooryck C; Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
  • Bieth E; Service de Génétique Médicale, CHU de Toulouse, Toulouse, France.
  • Colin E; Département de Biochimie et Génétique, LUNAM Université d'Angers, CHU Angers, Angers, France.
  • Bonneau D; Département de Biochimie et Génétique, LUNAM Université d'Angers, CHU Angers, Angers, France.
  • Journel H; Unité de Génétique Médicale, CH de Vannes, Vannes, France.
  • Walraedt S; Department of Ophthalmology, Ghent University Hospital & Ghent University, Ghent, Belgium.
  • Leroy BP; Department of Ophthalmology, Ghent University Hospital & Ghent University, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital & Ghent University, Ghent, Belgium.
  • Meire F; Department of Pediatric Ophthalmology, Queen Fabiola Children's University Hospital, Brussels, Belgium.
  • Lacombe D; Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
  • Arveiler B; 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.
J Invest Dermatol ; 134(2): 568-571, 2014 Feb.
Article in En | MEDLINE | ID: mdl-23985994

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Albinism, Oculocutaneous / Antiporters Type of study: Risk_factors_studies Limits: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male Language: En Journal: J Invest Dermatol Year: 2014 Document type: Article Affiliation country: Francia

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Albinism, Oculocutaneous / Antiporters Type of study: Risk_factors_studies Limits: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male Language: En Journal: J Invest Dermatol Year: 2014 Document type: Article Affiliation country: Francia