Deep intronic GPR143 mutation in a Japanese family with ocular albinism
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/srep11334.pdf
Reference32 articles.
1. Rosenberg, T. & Schwartz, M. X-linked ocular albinism: prevalence and mutations – a national study. Eur. J. Hum. Genet. 6, 570–577 (1998).
2. O’Donnell, F. E. Jr., Hambrick, G. W. Jr., Green, W. R., Iliff, W. J. & Stone, D. L. X-linked ocular albinism. An oculocutaneous macromelanosomal disorder. Arch. Ophthalmol. 94, 1883–1892 (1976).
3. Creel, D., O’Donnell, F. E. & Witkop, C. J. Jr. Visual system anomalies in human ocular albinos. Science. 201, 931–933 (1978).
4. 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).
5. Schiaffino, M. V. et al. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Hum. Mol. Genet. 4, 2319–2325 (1995).
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