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Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. 1999 December; 36(12): 932–934.
PMCID: PMC1734280

First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis

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