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

Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder. Six genes are associated with autosomal recessive OCA (TYR, OCA2, TYRP1, SLC45A2, SLC24A5 and LRMDA), and one gene, GPR143, is associated with X-linked ocular albinism (OA). Molecular genetic analysis provides a genetic diagnosis...

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Detalles Bibliográficos
Autores principales: Grønskov, Karen, Jespersgaard, Cathrine, Bruun, Gitte Hoffmann, Harris, Pernille, Brøndum-Nielsen, Karen, Andresen, Brage S., Rosenberg, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345944/
https://www.ncbi.nlm.nih.gov/pubmed/30679655
http://dx.doi.org/10.1038/s41598-018-37272-5

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