Searching for Genotype-Phenotype Correlations in X-Linked Juvenile Retinoschisis
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Publisher
Springer US
Link
http://link.springer.com/content/pdf/10.1007/978-1-4615-1355-1_6.pdf
Reference41 articles.
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2. Arden, G. B., Gorin, M. B., Polkinghorne, P. J., Jay, M., and Bird, A. C. 1988, Detection of the carrier state of X-linked retinoschisis, Am. J. Ophthalmol, 105(6): 590–595.
3. Baumgartner, S., Hofmann, K., Chiquet-Ehrismann, R., and Bucher, P. 1998, The discoidin domain family revisited: new members from prokaryotes and a homology-based fold prediction, Protein Sci., 7(7): 1626– 1631.
4. Bradshaw, K., George, N., Moore, A., and Trump, D. 1999, Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG, Doc. Ophthalmol, 98(2): 153–173.
5. Condon, G. P., Brownstein, S., Wang, N. S., Kearas, J. A., and Ewing, C. C. 1986, Congenital hereditary (juvenile X-linked) retinoschisis. Histopathologic and ultrastructural findings in three eyes, Arch. Ophthalmol, 104(4): 576–583.
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2. Biology of Retinoschisin;Retinal Degenerative Diseases;2011-11-11
3. Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) Disease;Human Mutation;2010-10-28
4. Unusual Phenotypic Expression of an XLRS1 Mutation in X-Linked Juvenile Retinoschisis;Journal of Child Neurology;2006-04
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