Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/srep33713.pdf
Reference27 articles.
1. Preising, M., Op de Laak, J. P. & Lorenz, B. Deletion in the OA1 gene in a family with congenital X linked nystagmus. Br J Ophthalmol. 85, 1098–1103 (2001).
2. Bassi, M. T. et al. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet. 10, 13–19 (1995).
3. Schiaffino, M. V. et al. The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. Proc Natl Acad Sci USA 93, 9055–9060 (1996).
4. Palmisano, I. et al. The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Hum Mol Genet. 17, 3487–3501 (2008).
5. Schnur, R. E. et al. OA1 mutations and deletions in X-linked ocular albinism. Am J Hum Genet. 62, 800–809 (1998).
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