Oculocutaneous Albinism (OCA) Type 1–5
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_549-1
Reference16 articles.
1. Bin B-H, Bhin J, Yang SH et al (2015) Membrane-associated transporter protein (MATP) regulates melanosomal pH and influences tyrosinase activity. PLoS One 10:e0129273. https://doi.org/10.1371/journal.pone.0129273
2. Chaki M, Mukhopadhyay A, Ray K (2005) Determination of variants in the 3′-region of the tyrosinase gene requires locus specific amplification. Hum Mutat 26:53–58. https://doi.org/10.1002/humu.20171
3. de Vijlder HC, de Vijlder JJM, Neumann HAM (2013) Oculocutaneous albinism and skin cancer risk. J Eur Acad Dermatol Venereol 27:e433–e434
4. Fukamachi S, Shimada A, Shima A (2001) Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. Nat Genet 28:381–385. https://doi.org/10.1038/ng584
5. Grønskov K, Ek J, Brondum-Nielsen K (2007) Oculocutaneous albinism. Orphanet J Rare Dis 2:43. https://doi.org/10.1186/1750-1172-2-43
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