A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

Grønskov, Karen; Jespersgaard, Cathrine; Bruun, Gitte Hoffmann; Harris, Pernille; Brøndum-Nielsen, Karen; Andresen, Brage S; Rosenberg, Thomas

Grønskov, Karen; Jespersgaard, Cathrine; Bruun, Gitte Hoffmann; Harris, Pernille; Brøndum-Nielsen, Karen; Andresen, Brage S; Rosenberg, Thomas.

Affiliation

Grønskov K; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark. karen.groenskov@regionh.dk.
Jespersgaard C; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark.
Bruun GH; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense, Denmark.
Harris P; Department of Chemistry, Technical University of Denmark, Kgs. Lyngby, Denmark.
Brøndum-Nielsen K; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark.
Andresen BS; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense, Denmark.
Rosenberg T; Department of Ophthalmology, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.

Sci Rep ; 9(1): 645, 2019 01 24.

Article de En | MEDLINE | ID: mdl-30679655

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Haplotypes / Albinisme oculaire Type d'étude: Etiology_studies / Risk_factors_studies Limites: Female / Humans / Male Pays/Région comme sujet: Europa Langue: En Journal: Sci Rep Année: 2019 Type de document: Article Pays d'affiliation: Danemark Pays de publication: Royaume-Uni

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