共 300 条
[1]
George NDL(1995)X linked retinoschisis Br J Ophthalmol 79 697-702
[2]
Yates JRW(1997)Positional cloning of the gene associated with X-linked juvenile retinoschisis Nat Genet 17 164-170
[3]
Moore AT(2005)RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer J Biol Chem 280 10721-10730
[4]
Sauer CG(2001)Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells Invest Ophthalmol Vis Sci 42 816-825
[5]
Gehrig A(2002)Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis Hum Mol Genet 11 3097-3105
[6]
Warneke-Wittstock R(2007)Elevated levels of cystatin C and tenascin-C in schisis cavities of patients with congenital X-linked retinoschisis Retina 27 1086-1089
[7]
Marquardt A(2000)Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene Arch Ophthal 118 1098-1104
[8]
Ewing CC(2010)Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease Hum Mutat 31 1251-1260
[9]
Gibson A(2006)Intraschisis cavity fluid composition in congenital X-linked retinoschisis Retina 26 S57-S60
[10]
Wu WW(2009)ISCEV Standard for full-field clinical electroretinography (2008 update) Doc Ophthalmol 118 69-77