Albinism, Ocular, Type 1 (OA1)
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_548-1
Reference14 articles.
1. Bueschbell B, Manga P, Schiedel AC (2022) The many faces of G protein-coupled receptor 143, an atypical intracellular receptor. Front Mol Biosci 9:873777. https://doi.org/10.3389/fmolb.2022.873777
2. Cho E-H, Kim S-Y, Kim J-K (2012) A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome. J Korean Med Sci 27:1273–1277. https://doi.org/10.3346/jkms.2012.27.10.1273
3. Fabian-Jessing BK, Vestergaard EM, Plomp AS et al (2018) Ocular albinism with infertility and late-onset sensorineural hearing loss. Am J Med Genet A 176:1587–1593. https://doi.org/10.1002/ajmg.a.38836
4. Fukuda N, Naito S, Masukawa D et al (2015) Expression of ocular albinism 1 (OA1), 3, 4- dihydroxy- L-phenylalanine (DOPA) receptor, in both neuronal and non-neuronal organs. Brain Res 1602:62–74. https://doi.org/10.1016/j.brainres.2015.01.020
5. Han R, Wang X, Wang D et al (2015) GPR143 gene mutations in five Chinese families with X-linked congenital Nystagmus. Sci Rep 5:12031. https://doi.org/10.1038/srep12031
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