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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Udgivet i:Sci Rep
Main Authors: Grønskov, Karen, Jespersgaard, Cathrine, Bruun, Gitte Hoffmann, Harris, Pernille, Brøndum-Nielsen, Karen, Andresen, Brage S., Rosenberg, Thomas
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6345944/
https://ncbi.nlm.nih.gov/pubmed/30679655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-37272-5
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