A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-018-37272-5.pdf
Reference17 articles.
1. Grønskov, K., Ek, J. & Brondum-Nielsen, K. Oculocutaneous albinism. Orphanet journal of rare diseases 2, 43 (2007).
2. Montoliu, L. et al. Increasing the complexity: new genes and new types of albinism. Pigment cell & melanoma research 27, 11–18 (2014).
3. Maretty, L. et al. Sequencing and de novo assembly of 150 genomes from denmark as a population reference. Nature 548, 87 (2017).
4. Mannermaa, E. et al. Filter-cultured arpe-19 cells as outer blood–retinal barrier model. European Journal of Pharmaceutical Sciences 40, 289–296 (2010).
5. Balu, K. & Purohit, R. Mutational analysis of tyr gene and its structural consequences in oca1a. Gene 513, 184–195 (2013).
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