PMID 10533068 1999 Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
PMID 10234514 1999 Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.
PMID 10220153 1999 Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.
PMID 17615541 2007 Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
PMID 17631851 2007 Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.
PMID 17304551 2007 X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.
PMID 10450864 1999 Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.
PMID 19849666 2009 Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.
PMID 19093009 2008 Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
PMID 10079181 1999 Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.
PMID 9326935 1997 Positional cloning of the gene associated with X-linked juvenile retinoschisis.
PMID 27798099 2016 Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
rs61752067 in
RS1;CDKL5 gene and
Retinal Dystrophies
PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.