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References

These sources were used to develop the Genetics Home Reference gene summary on the RS1 gene.

Entrez Gene
Li X, Ma X, Tao Y. Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. Mol Vis. 2007 Jun 7;13:804-12. PubMed citation
Molday RS. Focus on molecules: retinoschisin (RS1). Exp Eye Res. 2007 Feb;84(2):227-8. Epub 2006 Apr 4. Review. PubMed citation
OMIM: RETINOSCHISIS 1, X-LINKED, JUVENILE
Pimenides D, George ND, Yates JR, Bradshaw K, Roberts SA, Moore AT, Trump D. X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. J Med Genet. 2005 Jun;42(6):e35. PubMed citation
Sikkink SK, Biswas S, Parry NR, Stanga PE, Trump D. X-linked retinoschisis: an update. J Med Genet. 2007 Apr;44(4):225-32. Epub 2006 Dec 15. Review. PubMed citation
Wu WW, Molday RS. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem. 2003 Jul 25;278(30):28139-46. Epub 2003 May 13. PubMed citation
Wu WW, Wong JP, Kast J, Molday RS. RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer. J Biol Chem. 2005 Mar 18;280(11):10721-30. Epub 2005 Jan 11. PubMed citation

Reviewed: August 2008

Published: May 13, 2013